ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.597C>T (p.Gly199=)

dbSNP: rs143407309
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001440326 SCV001643232 likely benign Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2024-01-22 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001820133 SCV002066640 likely benign not specified 2020-02-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001440326 SCV002803690 likely benign Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2021-08-05 criteria provided, single submitter clinical testing

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