ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.1617-5T>C

dbSNP: rs904057670
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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 RCV002167871 SCV002334571 likely benign Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2022-08-16 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002167871 SCV002810249 likely benign Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2021-09-02 criteria provided, single submitter clinical testing

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