ClinVar Miner

Submissions for variant NM_024408.4(NOTCH2):c.1681+9C>A

gnomAD frequency: 0.00009  dbSNP: rs192886452
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000380805 SCV000334304 likely benign not specified 2015-09-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002059112 SCV002332138 benign Hajdu-Cheney syndrome 2023-08-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502102 SCV002809412 likely benign Alagille syndrome due to a NOTCH2 point mutation; Hajdu-Cheney syndrome 2021-10-28 criteria provided, single submitter clinical testing

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