ClinVar Miner

Submissions for variant NM_022455.5(NSD1):c.3088T>C (p.Leu1030=)

gnomAD frequency: 0.00016  dbSNP: rs61756006
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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) RCV000723654 SCV000114062 uncertain significance not provided 2013-08-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000254116 SCV000314057 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV002316269 SCV000850474 likely benign Inborn genetic diseases 2017-02-07 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.
Genome-Nilou Lab RCV003231130 SCV002055000 likely benign Sotos syndrome 2021-07-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003231130 SCV002474096 likely benign Sotos syndrome 2022-09-13 criteria provided, single submitter clinical testing

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