ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.221-4A>G

gnomAD frequency: 0.00018  dbSNP: rs373526073
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000874078 SCV001016204 likely benign Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2023-10-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000874078 SCV002803440 likely benign Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2021-11-02 criteria provided, single submitter clinical testing

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