ClinVar Miner

Submissions for variant NM_024408.4(NOTCH2):c.1108+14G>A

gnomAD frequency: 0.00098  dbSNP: rs377649578
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001636093 SCV001851131 benign not provided 2020-05-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002072962 SCV002355209 benign Hajdu-Cheney syndrome 2024-01-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501981 SCV002809410 likely benign Alagille syndrome due to a NOTCH2 point mutation; Hajdu-Cheney syndrome 2021-10-22 criteria provided, single submitter clinical testing

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