ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.2112+17G>A

gnomAD frequency: 0.00029  dbSNP: rs754713552
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001479084 SCV001683376 likely benign Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2023-12-26 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001479084 SCV002804252 likely benign Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2022-05-19 criteria provided, single submitter clinical testing

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