ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.3171+42G>A

gnomAD frequency: 0.08084  dbSNP: rs11145765
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001714384 SCV001945128 benign not provided 2018-06-26 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001785837 SCV002026846 benign Adams-Oliver syndrome 5 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001785836 SCV002026847 benign Aortic valve disease 1 2021-09-05 criteria provided, single submitter clinical testing

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