ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.929+17G>A

gnomAD frequency: 0.00014  dbSNP: rs376439930
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001403697 SCV001605574 likely benign Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2024-01-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001403697 SCV002802504 likely benign Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2022-03-12 criteria provided, single submitter clinical testing

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