ClinVar Miner

Submissions for variant NM_024408.4(NOTCH2):c.2480-4C>G

gnomAD frequency: 0.00016  dbSNP: rs201770901
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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 RCV002118076 SCV002402791 benign Hajdu-Cheney syndrome 2024-01-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002480955 SCV002801616 likely benign Alagille syndrome due to a NOTCH2 point mutation; Hajdu-Cheney syndrome 2021-10-26 criteria provided, single submitter clinical testing

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