ClinVar Miner

Submissions for variant NM_001105206.3(LAMA4):c.4235T>C (p.Leu1412Pro) (rs376369192)

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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 RCV000247890 SCV000320069 uncertain significance Cardiovascular phenotype 2015-08-20 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,Insufficient or conflicting evidence
Fulgent Genetics,Fulgent Genetics RCV000764618 SCV000895725 uncertain significance Dilated cardiomyopathy 1JJ 2018-10-31 criteria provided, single submitter clinical testing

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