ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.498T>G (p.Ser166=)

gnomAD frequency: 0.00002  dbSNP: rs762183907
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001471050 SCV001675152 likely benign Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2023-11-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004734204 SCV005353134 likely benign SDCCAG8-related disorder 2024-03-13 no assertion criteria provided 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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