ClinVar Miner

Submissions for variant NM_024408.4(NOTCH2):c.1108+30A>G

gnomAD frequency: 0.97622  dbSNP: rs2493409
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001696726 SCV001916452 benign not provided 2018-07-09 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001785832 SCV002026872 benign Alagille syndrome due to a NOTCH2 point mutation 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001785833 SCV002026873 benign Hajdu-Cheney syndrome 2021-09-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001696726 SCV005283327 benign not provided criteria provided, single submitter not provided

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