ClinVar Miner

Submissions for variant NM_024408.4(NOTCH2):c.1568-17C>T

gnomAD frequency: 0.00198  dbSNP: rs373665797
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001636256 SCV001851327 benign not provided 2020-05-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002072963 SCV002479856 benign Hajdu-Cheney syndrome 2024-01-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495973 SCV002797800 likely benign Alagille syndrome due to a NOTCH2 point mutation; Hajdu-Cheney syndrome 2021-07-30 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001636256 SCV005283322 benign not provided criteria provided, single submitter not provided
Clinical Genetics, Academic Medical Center RCV001699826 SCV001923996 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001699826 SCV001931608 benign not specified no assertion criteria provided clinical testing

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