ClinVar Miner

Submissions for variant NM_024408.4(NOTCH2):c.2042T>A (p.Ile681Asn)

gnomAD frequency: 0.00026  dbSNP: rs74882029
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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) RCV000121711 SCV000345509 benign not specified 2016-09-16 criteria provided, single submitter clinical testing
GeneDx RCV001723687 SCV001950974 benign not provided 2020-12-04 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24728327, 22209762)
Invitae RCV002055372 SCV002361942 benign Hajdu-Cheney syndrome 2024-01-04 criteria provided, single submitter clinical testing
ITMI RCV000121711 SCV000085909 not provided not specified 2013-09-19 no assertion provided reference population

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