ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.963C>T (p.Ser321=)

gnomAD frequency: 0.00004  dbSNP: rs751551796
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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 RCV002195417 SCV002355782 likely benign Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2022-08-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004729065 SCV005336809 likely benign SDCCAG8-related disorder 2020-02-21 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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