ClinVar Miner

Submissions for variant NM_024408.4(NOTCH2):c.7042T>C (p.Leu2348=)

gnomAD frequency: 0.00241  dbSNP: rs61734328
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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) RCV000349702 SCV000345401 benign not specified 2016-09-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001521752 SCV001731151 benign Hajdu-Cheney syndrome 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001668624 SCV001889066 benign not provided 2020-05-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502154 SCV002809389 likely benign Alagille syndrome due to a NOTCH2 point mutation; Hajdu-Cheney syndrome 2021-09-23 criteria provided, single submitter clinical testing

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