ClinVar Miner

Submissions for variant NM_002253.3(KDR):c.1444T>C (p.Cys482Arg) (rs34231037)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ITMI RCV000121295 SCV000085466 not provided not specified 2013-09-19 no assertion provided reference population
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000121295 SCV000539466 likely 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 in ESP(all): 265/13006=2.03%
OMIM RCV000013111 SCV000033358 risk factor Hemangioma, capillary infantile 2008-11-01 no assertion criteria provided literature only

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