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: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae 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

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