ClinVar Miner

Submissions for variant NM_001001557.4(GDF6):c.936G>C (p.Ser312=) (rs148861809)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000251566 SCV000305607 likely benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000311743 SCV000475538 likely benign Klippel Feil syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000535826 SCV000648561 benign Klippel-Feil syndrome 1, autosomal dominant; Microphthalmia, isolated 4; Microphthalmia, isolated, with coloboma 6; Leber congenital amaurosis 17 2017-08-01 criteria provided, single submitter clinical testing

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