ClinVar Miner

Submissions for variant NM_001006657.2(WDR35):c.549C>T (p.Tyr183=) (rs34169020)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000260588 SCV000426060 likely benign Short Rib Polydactyly Syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000315882 SCV000426061 likely benign Cranioectodermal dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000556548 SCV000660380 benign Cranioectodermal dysplasia 2; Short rib polydactyly syndrome 5 2017-08-02 criteria provided, single submitter clinical testing

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