ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.996A>G (p.Arg332=)

gnomAD frequency: 0.00003  dbSNP: rs142658750
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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 RCV001464384 SCV001668351 likely benign Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2023-11-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001464384 SCV002799334 likely benign Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2022-03-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004533801 SCV004751822 likely benign SDCCAG8-related disorder 2022-03-10 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).

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