ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.6180+44T>C

gnomAD frequency: 0.12085  dbSNP: rs9632944
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001711048 SCV001938725 benign not provided 2018-06-23 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001785835 SCV002026839 benign Adams-Oliver syndrome 5 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001785834 SCV002026840 benign Aortic valve disease 1 2021-09-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001711048 SCV005323730 benign not provided criteria provided, single submitter not provided

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