ClinVar Miner

Submissions for variant NM_022455.5(NSD1):c.7597C>G (p.Leu2533Val)

gnomAD frequency: 0.00008  dbSNP: rs398124386
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000723554 SCV000114089 uncertain significance not provided 2015-09-10 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000146951 SCV000194284 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003231151 SCV000546558 likely benign Sotos syndrome 2022-10-24 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003231151 SCV002055044 uncertain significance Sotos syndrome 2021-07-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV003162516 SCV003872345 likely benign Inborn genetic diseases 2023-01-24 criteria provided, single submitter clinical testing This alteration is classified as likely 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.

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