ClinVar Miner

Submissions for variant NM_022455.5(NSD1):c.6480G>A (p.Pro2160=)

gnomAD frequency: 0.00001  dbSNP: rs587784203
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000146934 SCV000194263 likely benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003231323 SCV002444466 likely benign Sotos syndrome 2022-09-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004751292 SCV005344605 likely benign NSD1-related disorder 2024-05-23 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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