ClinVar Miner

Submissions for variant NM_020751.3(COG6):c.65A>G (p.Asn22Ser)

gnomAD frequency: 0.00133  dbSNP: rs149055210
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000528926 SCV000652563 likely benign COG6-ongenital disorder of glycosylation; Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome 2023-10-26 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004538062 SCV004724793 likely benign COG6-related disorder 2022-09-07 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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