"GeneDx"[submitter] AND "LOC129993631"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 138303	NM_002454.2(MTRR):c.-119T>C	LOC129993631, MTRR	Single nucleotide variant (genic upstream transcript variant)	Disorders of Intracellular Cobalamin Metabolism +3 more	GBenign
Select item 508943	NM_002454.3(MTRR):c.-26+6C>G	LOC129993631, MTRR	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 507091	NM_002454.3(MTRR):c.-26+8G>C	LOC129993631, MTRR	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 354341	NM_002454.3(MTRR):c.-26+14C>T	LOC129993631, MTRR	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1291445	NM_002454.3(MTRR):c.-26+129del	LOC129993631, MTRR	Deletion (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1272657	NM_002454.3(MTRR):c.-26+250C>T	LOC129993631, MTRR	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1220005	NM_002454.3(MTRR):c.-26+263C>T	LOC129993631, MTRR	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign

ClinVar