"GeneDx"[submitter] AND "COMETT"[gene] - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59715	GRCh38/hg38 7q31.2(chr7:115042242-116687714)x3	CAV1, CAV2 +48 more	Copy number gain	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	AASS, ABCB8 +1547 more	Copy number gain	See cases	GPathogenic
Select item 1166750	NM_000245.4(MET):c.-207C>G	COMETT, MET	Single nucleotide variant (5 prime UTR variant)	Renal cell carcinoma +1 more	GBenign
Select item 1213443	NM_000245.4(MET):c.-81G>T	COMETT, MET	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 676958	NM_000245.4(MET):c.-15+237del	COMETT, MET	Deletion (intron variant)	not provided	GLikely benign

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