ClinVar Miner

Submissions for variant NM_022455.5(NSD1):c.6903G>C (p.Gly2301=)

gnomAD frequency: 0.16701  dbSNP: rs11740250
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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) RCV000082139 SCV000114085 benign not specified 2014-07-03 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000082139 SCV000194279 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000082139 SCV000314078 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV002311713 SCV000846184 benign Inborn genetic diseases 2016-03-16 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.
GeneDx RCV001709483 SCV001938798 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003231148 SCV002029467 benign Sotos syndrome 2021-09-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001709483 SCV002407999 benign not provided 2025-02-04 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000082139 SCV001742193 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000082139 SCV001953483 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000082139 SCV001968858 benign not specified no assertion criteria provided clinical testing

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