ClinVar Miner

Submissions for variant NM_024408.4(NOTCH2):c.2127C>T (p.Pro709=)

gnomAD frequency: 0.00002  dbSNP: rs141051853
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002166914 SCV002335516 benign Hajdu-Cheney syndrome 2024-10-21 criteria provided, single submitter clinical testing

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