ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.3982G>A (p.Val1328Met) (rs730880164)

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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 RCV000619445 SCV000739326 uncertain significance Cardiovascular phenotype 2017-06-30 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Blueprint Genetics RCV000157374 SCV000207112 uncertain significance Loeys-Dietz syndrome 2014-07-21 no assertion criteria provided clinical testing

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