ClinVar Miner

Submissions for variant NM_000435.3(NOTCH3):c.2175T>C (p.Ser725=)

gnomAD frequency: 0.00214  dbSNP: rs141993521
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000517224 SCV000614252 benign not specified 2021-05-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000945580 SCV001091615 benign not provided 2024-10-28 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000945580 SCV001472572 benign not provided 2023-09-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000945580 SCV005209594 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV004541608 SCV004765275 benign NOTCH3-related disorder 2021-04-01 no assertion criteria provided 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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