ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.987G>A (p.Thr329=)

gnomAD frequency: 0.00003  dbSNP: rs778065772
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001394935 SCV001596631 likely benign Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2022-10-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001394935 SCV002802578 likely benign Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2022-04-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004531212 SCV004726314 likely benign SDCCAG8-related disorder 2021-04-16 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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