ClinVar Miner

Submissions for variant NM_022455.5(NSD1):c.6464-8G>T

gnomAD frequency: 0.00019  dbSNP: rs577262396
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000594381 SCV000707729 uncertain significance not provided 2017-05-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003231539 SCV001007712 likely benign Sotos syndrome 2022-08-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003231539 SCV002055033 likely benign Sotos syndrome 2021-07-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003962716 SCV004777452 likely benign NSD1-related disorder 2023-07-28 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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