ClinVar Miner

Submissions for variant NM_020751.3(COG6):c.1645G>T (p.Gly549Cys)

gnomAD frequency: 0.00078  dbSNP: rs141114931
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000954541 SCV001101178 likely benign COG6-ongenital disorder of glycosylation; Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome 2023-12-25 criteria provided, single submitter clinical testing
GeneDx RCV002508272 SCV002817978 uncertain significance not provided 2022-06-29 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Baylor Genetics RCV003147568 SCV003835302 uncertain significance COG6-ongenital disorder of glycosylation 2021-03-18 criteria provided, single submitter clinical testing

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