ClinVar Miner

Submissions for variant NM_022455.5(NSD1):c.1716C>T (p.Ser572=)

gnomAD frequency: 0.00001  dbSNP: rs375093905
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003232144 SCV001634527 likely benign Sotos syndrome 2021-11-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003424397 SCV004158069 likely benign not provided 2023-08-01 criteria provided, single submitter clinical testing NSD1: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003965712 SCV004781538 likely benign NSD1-related disorder 2019-03-01 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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