ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.929+18C>T

gnomAD frequency: 0.00164  dbSNP: rs200895248
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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 RCV001516171 SCV001724409 benign Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2025-01-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001516171 SCV002810155 likely benign Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2021-07-30 criteria provided, single submitter clinical testing

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