ClinVar Miner

Submissions for variant NM_020779.4(WDR35):c.3170A>G (p.Tyr1057Cys)

gnomAD frequency: 0.00003  dbSNP: rs541910371
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000507380 SCV000605600 likely pathogenic not specified 2017-01-17 criteria provided, single submitter clinical testing
Baylor Genetics RCV000578488 SCV000807644 uncertain significance Cranioectodermal dysplasia 2 2017-09-01 criteria provided, single submitter clinical testing This variant was previously reported as pathogenic and was found once in our laboratory In trans with another missense variant (H1031Y) in a 6-month-old male with cranioectodermal dysplasia. Heterozygotes would be expected to be asymptomatic carriers.
Ambry Genetics RCV001266500 SCV001444675 likely pathogenic Inborn genetic diseases 2018-05-16 criteria provided, single submitter clinical testing
OMIM RCV000578488 SCV000680472 pathogenic Cranioectodermal dysplasia 2 2018-02-06 no assertion criteria provided literature only

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