ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.1761G>A (p.Leu587=)

gnomAD frequency: 0.00190  dbSNP: rs149837444
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000872912 SCV001014805 benign Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2024-01-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000872912 SCV002807407 likely benign Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2021-07-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004540247 SCV004797780 likely benign SDCCAG8-related disorder 2021-08-20 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Breakthrough Genomics, Breakthrough Genomics RCV004715342 SCV005283069 benign not provided criteria provided, single submitter not provided

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