ClinVar Miner

Submissions for variant NM_000603.5(NOS3):c.894T>G (p.Asp298Glu) (rs1799983)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare 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
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, susceptibility to 2007-04-01 no assertion criteria provided literature only

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