ClinVar Miner

Submissions for variant NM_022455.5(NSD1):c.2399T>C (p.Met800Thr)

gnomAD frequency: 0.00005  dbSNP: rs142023792
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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) RCV000082111 SCV000114057 uncertain significance not provided 2013-04-04 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV003231127 SCV000194113 uncertain significance Sotos syndrome 2013-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003231127 SCV002054898 uncertain significance Sotos syndrome 2021-07-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV003258665 SCV003978491 likely benign Inborn genetic diseases 2023-03-20 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000082111 SCV005842609 likely benign not provided 2024-04-22 criteria provided, single submitter clinical testing

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