ClinVar Miner

Submissions for variant NM_000603.5(NOS3):c.894T>G (p.Asp298Glu)

gnomAD frequency: 0.76319  dbSNP: rs1799983
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Total submissions: 10
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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 RCV000455688 SCV000539935 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, variant associated with coronary artery spasm, alzheimers, hypertension, stroke, heart disease
GeneDx RCV001689570 SCV001914435 benign not provided 2021-05-04 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 19435423, 21706163, 25095657, 20467051, 20854685, 19364839, 19158254, 21607713, 19560472, 17919260, 25937798, 20083095, 21816783, 17449720, 22025889, 19531501, 21919778, 21320716, 22561696, 21406182, 19929133, 19373110, 20691505, 23342892, 11823442, 23922896, 19804474, 20103956, 18815450, 18629615, 19087148, 20367485, 20193212, 22940147, 20049477, 23594558, 19773668, 9737779, 10451235, 11354626)
Fulgent Genetics, Fulgent Genetics RCV002504788 SCV002803002 benign Ischemic stroke; Alzheimer disease type 1; Preeclampsia/eclampsia 1; Essential hypertension, genetic 2021-09-22 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001689570 SCV005273320 benign not provided criteria provided, single submitter not provided
OMIM RCV000015053 SCV000035309 risk factor Coronary artery spasm 1, susceptibility to 2007-04-01 no assertion criteria provided literature only
OMIM RCV000015054 SCV000035310 risk factor Alzheimer disease, late-onset, susceptibility to 2007-04-01 no assertion criteria provided literature only
OMIM RCV000015055 SCV000035311 risk factor Hypertension, pregnancy-induced, susceptibility to 2007-04-01 no assertion criteria provided literature only
OMIM RCV000015056 SCV000035312 pathogenic Hypertension resistant to conventional therapy 2007-04-01 no assertion criteria provided literature only
OMIM RCV000015057 SCV000035313 risk factor Ischemic heart disease, susceptibility to 2007-04-01 no assertion criteria provided literature only
OMIM RCV000015058 SCV000035314 risk factor Ischemic stroke 2007-04-01 no assertion criteria provided literature only

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