ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.912C>T (p.Thr304=) (rs976529)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000367688 SCV000356815 likely benign Renal dysplasia and retinal aplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000399289 SCV000356816 likely benign Bardet-Biedl syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000557519 SCV000655041 benign Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2017-05-08 criteria provided, single submitter clinical testing
PreventionGenetics RCV000247646 SCV000311548 benign not specified criteria provided, single submitter clinical testing

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