ClinVar Miner

Submissions for variant NM_024408.4(NOTCH2):c.4999G>T (p.Val1667Phe)

dbSNP: rs17024517
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000364935 SCV000342439 likely benign not specified 2017-04-25 criteria provided, single submitter clinical testing
GeneDx RCV001610785 SCV001842351 benign not provided 2020-05-08 criteria provided, single submitter clinical testing
Invitae RCV002059235 SCV002435611 benign Hajdu-Cheney syndrome 2024-01-25 criteria provided, single submitter clinical testing

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