ClinVar Miner

Submissions for variant NM_024408.4(NOTCH2):c.5214-12T>C

gnomAD frequency: 0.00003  dbSNP: rs770224035
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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 RCV002116970 SCV002391783 likely benign Hajdu-Cheney syndrome 2024-01-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002499940 SCV002808525 likely benign Alagille syndrome due to a NOTCH2 point mutation; Hajdu-Cheney syndrome 2022-03-15 criteria provided, single submitter clinical testing

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