ClinVar Miner

Submissions for variant NM_000435.3(NOTCH3):c.5284G>A (p.Val1762Met)

gnomAD frequency: 0.00010  dbSNP: rs756495084
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV001288094 SCV001474942 benign not specified 2020-07-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002069542 SCV002389602 likely benign not provided 2021-09-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004545177 SCV004765803 likely benign NOTCH3-related disorder 2024-01-31 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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