ClinVar Miner

Submissions for variant NM_024408.4(NOTCH2):c.1248G>A (p.Val416=)

gnomAD frequency: 0.00001  dbSNP: rs374135765
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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 RCV001475046 SCV001679229 likely benign Hajdu-Cheney syndrome 2023-07-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002506328 SCV002807228 likely benign Alagille syndrome due to a NOTCH2 point mutation; Hajdu-Cheney syndrome 2021-09-21 criteria provided, single submitter clinical testing

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