ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.1094G>C (p.Arg365Thr) (rs115098969)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000500792 SCV000596995 likely benign not specified 2016-10-18 criteria provided, single submitter clinical testing
Invitae RCV000652121 SCV000773989 benign Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2017-08-24 criteria provided, single submitter clinical testing

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