ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.1503T>C (p.Asp501=)

gnomAD frequency: 0.00001  dbSNP: rs757292520
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002065809 SCV002389696 likely benign Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2023-11-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002065809 SCV002797501 likely benign Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2021-10-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004735885 SCV005365209 likely benign SDCCAG8-related disorder 2024-04-14 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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