ClinVar Miner

Submissions for variant NM_000302.4(PLOD1):c.1582G>A (p.Glu528Lys) (rs112250644)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000551515 SCV000631700 likely benign not provided 2018-07-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV000620632 SCV000739524 likely benign Cardiovascular phenotype 2017-07-10 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Sub-population frequency in support of benign classification (not ava blue, manual h-w),In silico models in agreement (benign)

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