ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.2004G>A (p.Lys668=)

gnomAD frequency: 0.00001  dbSNP: rs754838222
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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 RCV002128127 SCV002441174 likely benign Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2023-03-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002128127 SCV002804189 likely benign Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2022-04-10 criteria provided, single submitter clinical testing

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