ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.2361C>T (p.Phe787=) (rs200133722)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000286180 SCV000341533 likely benign not specified 2016-05-17 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000365966 SCV000449402 uncertain significance Cranioectodermal dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000399917 SCV000449403 uncertain significance Jeune thoracic dystrophy 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756913 SCV000884896 likely benign not provided 2017-08-08 criteria provided, single submitter clinical testing The c.2361C>T; p.Phe787Phe variant (rs200133722) does not alter the amino acid sequence of the WDR19 protein and computational splice site prediction algorithms do not predict a change in the nearest splice site or creation of a cryptic splice site. This variant has not been reported in association with skeletal dysplasia in medical literature or in gene specific variation databases. This variant is listed in the genome Aggregation Database (gnomAD) with an overall population frequency of 0.16% (identified on 314 out of 191,464 chromosomes). Based on the available information, the c.2361C>T variant is likely to be benign.

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