ClinVar Miner

Submissions for variant NM_000435.3(NOTCH3):c.3569G>A (p.Arg1190His)

gnomAD frequency: 0.00013  dbSNP: rs372241697
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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) RCV000731235 SCV000859026 uncertain significance not provided 2018-01-02 criteria provided, single submitter clinical testing
Athena Diagnostics RCV004997258 SCV001143380 benign not specified 2024-11-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000731235 SCV003257317 benign not provided 2024-04-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004535843 SCV004736208 likely benign NOTCH3-related disorder 2023-04-26 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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