ClinVar Miner

Submissions for variant NM_020751.3(COG6):c.153+19G>A

gnomAD frequency: 0.00460  dbSNP: rs45508796
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001697836 SCV000525156 likely benign not provided 2018-05-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002062707 SCV002461361 benign COG6-congenital disorder of glycosylation; Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome 2025-01-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002062707 SCV002802801 likely benign COG6-congenital disorder of glycosylation; Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome 2021-10-13 criteria provided, single submitter clinical testing

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