ClinVar Miner

Submissions for variant NM_024408.4(NOTCH2):c.5065A>T (p.Ile1689Phe)

gnomAD frequency: 0.00150  dbSNP: rs60854092
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000638608 SCV000760145 benign Hajdu-Cheney syndrome 2025-01-24 criteria provided, single submitter clinical testing
GeneDx RCV001788037 SCV002031025 likely benign not provided 2021-03-21 criteria provided, single submitter clinical testing
ITMI RCV000121728 SCV000085926 not provided not specified 2013-09-19 no assertion provided reference population
PreventionGenetics, part of Exact Sciences RCV003915215 SCV004736366 benign NOTCH2-related disorder 2019-05-28 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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