ClinVar Miner

Submissions for variant NM_144573.3(NEXN):c.1400T>C (p.Ile467Thr) (rs370195451)

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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 RCV000248087 SCV000320021 uncertain significance Cardiovascular phenotype 2015-08-11 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Rarity in general population databases (dbsnp, esp, 1000 genomes),In silico models in agreement (deleterious) and/or completely conserved position in appropriate species
Blueprint Genetics RCV000208073 SCV000264126 uncertain significance Primary familial hypertrophic cardiomyopathy 2015-10-09 criteria provided, single submitter clinical testing

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