ClinVar Miner

Submissions for variant NM_000603.5(NOS3):c.2984+15A>G

gnomAD frequency: 0.85115  dbSNP: rs891512
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000455219 SCV000539937 benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
GeneDx RCV001683502 SCV001900811 benign not provided 2021-05-13 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001683502 SCV005273341 benign not provided criteria provided, single submitter not provided

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