ClinVar Miner

Submissions for variant NM_024408.4(NOTCH2):c.2752+17G>C

gnomAD frequency: 0.00066  dbSNP: rs370708756
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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 RCV002122643 SCV002401096 benign Hajdu-Cheney syndrome 2024-01-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494269 SCV002802637 likely benign Alagille syndrome due to a NOTCH2 point mutation; Hajdu-Cheney syndrome 2021-08-09 criteria provided, single submitter clinical testing

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