ClinVar Miner

Submissions for variant NM_024408.4(NOTCH2):c.3462G>A (p.Ala1154=)

gnomAD frequency: 0.00006  dbSNP: rs146593279
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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 RCV002212916 SCV002361004 likely benign Hajdu-Cheney syndrome 2023-12-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002479879 SCV002802376 likely benign Alagille syndrome due to a NOTCH2 point mutation; Hajdu-Cheney syndrome 2022-01-13 criteria provided, single submitter clinical testing

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