ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.363C>A (p.Tyr121Ter) (rs748523193)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665849 SCV000790035 likely pathogenic Chondroectodermal dysplasia 2017-03-02 criteria provided, single submitter clinical testing
Dan Cohn Lab,University Of California Los Angeles RCV000516149 SCV000612082 pathogenic Short rib-polydactyly syndrome, Majewski type 2017-06-01 no assertion criteria provided research

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