ClinVar Miner

Submissions for variant NM_000435.3(NOTCH3):c.1059C>T (p.Asp353=)

gnomAD frequency: 0.00001  dbSNP: rs529200949
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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 RCV000991694 SCV001143361 benign not provided 2019-03-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000991694 SCV005706318 likely benign not provided 2024-05-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004726765 SCV005337757 likely benign NOTCH3-related disorder 2024-06-08 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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