ClinVar Miner

Submissions for variant NM_022455.5(NSD1):c.7410T>C (p.Ala2470=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003232722 SCV003268103 likely benign Sotos syndrome 2021-12-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003898613 SCV004708355 likely benign NSD1-related disorder 2022-01-13 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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