ClinVar Miner

Submissions for variant NM_001042424.3(NSD2):c.1330A>G (p.Thr444Ala)

gnomAD frequency: 0.00651  dbSNP: rs112014939
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000969184 SCV001116681 benign not provided 2024-01-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003970003 SCV004785235 benign NSD2-related condition 2019-08-28 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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