ClinVar Miner

Submissions for variant NM_001042424.3(NSD2):c.228C>T (p.Ala76=)

gnomAD frequency: 0.00430  dbSNP: rs74665455
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000970964 SCV001118575 benign not provided 2024-01-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000970964 SCV004147525 benign not provided 2023-09-01 criteria provided, single submitter clinical testing NSD2: BP4, BP7, BS1, BS2
PreventionGenetics, part of Exact Sciences RCV003970002 SCV004781447 benign NSD2-related condition 2019-08-14 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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