ClinVar Miner

Submissions for variant NM_022455.5(NSD1):c.1482C>T (p.Cys494=)

gnomAD frequency: 0.36334  dbSNP: rs1363405
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000082100 SCV000114046 benign not specified 2013-06-10 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000082100 SCV000194087 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000082100 SCV000314045 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV002311701 SCV000846042 benign Inborn genetic diseases 2016-03-19 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp RCV001711254 SCV001725152 benign not provided 2025-02-04 criteria provided, single submitter clinical testing
GeneDx RCV001711254 SCV001944892 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003231118 SCV002054840 benign Sotos syndrome 2021-07-15 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000082100 SCV001743299 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000082100 SCV001957515 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000082100 SCV001971240 benign not specified no assertion criteria provided clinical testing

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