ClinVar Miner

Submissions for variant NM_001042424.3(NSD2):c.4023C>T (p.Pro1341=)

gnomAD frequency: 0.00201  dbSNP: rs149925711
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002236476 SCV002507836 benign not provided 2024-01-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002496169 SCV002802170 likely benign 4p partial monosomy syndrome; Rauch-Steindl syndrome 2021-08-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002236476 SCV005299417 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003971200 SCV004794234 benign NSD2-related disorder 2019-08-20 no assertion criteria provided 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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