ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.1987C>T (p.Leu663=)

dbSNP: rs751286389
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000443204 SCV000521475 likely benign not specified 2015-12-07 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV003766242 SCV004586845 likely benign Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2023-11-02 criteria provided, single submitter clinical testing

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