ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.925G>A (p.Val309Ile)

gnomAD frequency: 0.00072  dbSNP: rs149359674
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000180303 SCV000232711 uncertain significance not provided 2014-12-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001078537 SCV001015501 likely benign Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2024-01-12 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004537508 SCV004729315 likely benign SDCCAG8-related disorder 2020-02-28 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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