ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.1935G>A (p.Leu645=)

gnomAD frequency: 0.00006  dbSNP: rs185944691
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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 RCV002079130 SCV002426149 likely benign Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2023-04-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002079130 SCV002807242 likely benign Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2021-09-16 criteria provided, single submitter clinical testing

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