ClinVar Miner

Submissions for variant NM_024408.4(NOTCH2):c.1109-12A>C

gnomAD frequency: 0.00004  dbSNP: rs782601589
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002123952 SCV002447842 likely benign Hajdu-Cheney syndrome 2023-08-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494404 SCV002795823 likely benign Alagille syndrome due to a NOTCH2 point mutation; Hajdu-Cheney syndrome 2022-04-28 criteria provided, single submitter clinical testing

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