ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.1333G>C (p.Ala445Pro) (rs782465430)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000243320 SCV000320558 uncertain significance Cardiovascular phenotype 2015-12-22 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Rarity in general population databases (dbsnp, esp, 1000 genomes),Insufficient or conflicting evidence
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000506902 SCV000604054 uncertain significance not specified 2016-12-21 criteria provided, single submitter clinical testing

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