ClinVar Miner

Submissions for variant NM_024408.4(NOTCH2):c.7326C>T (p.Ser2442=)

dbSNP: rs2101141240
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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 RCV002116594 SCV002442109 likely benign Hajdu-Cheney syndrome 2023-11-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500199 SCV002808932 likely benign Alagille syndrome due to a NOTCH2 point mutation; Hajdu-Cheney syndrome 2022-04-08 criteria provided, single submitter clinical testing

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