ClinVar Miner

Submissions for variant NM_020779.4(WDR35):c.3058C>T (p.His1020Tyr)

dbSNP: rs1553316264
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000578480 SCV000807576 uncertain significance Cranioectodermal dysplasia 2 2017-09-01 criteria provided, single submitter clinical testing This variant was found once in our laboratory In trans with another missense variant (Y1068C) in a 6-month-old male with cranioectodermal dysplasia.
OMIM RCV000578480 SCV000680471 pathogenic Cranioectodermal dysplasia 2 2018-02-06 no assertion criteria provided literature only

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