ClinVar Miner

Submissions for variant NM_015275.3(WASHC4):c.3041A>G (p.Tyr1014Cys)

dbSNP: rs768574664
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001093428 SCV001250404 likely pathogenic not provided 2019-11-01 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV001093428 SCV001443063 uncertain significance not provided 2020-11-16 criteria provided, single submitter clinical testing Review of the variants reported in Reuter et al., 2017, PMID: 28097321 PM2, PM3_Supporting
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital RCV004798887 SCV005420357 pathogenic Intellectual disability 2024-10-04 criteria provided, single submitter research PP1,PM3(moderate),PM2,PP3
OMIM RCV001836613 SCV002074120 pathogenic Intellectual disability, autosomal recessive 43 2022-07-07 no assertion criteria provided literature only

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