ClinVar Miner

Submissions for variant NM_000302.4(PLOD1):c.897G>A (p.Pro299=) (rs199946373)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000617890 SCV000739534 likely benign Cardiovascular phenotype 2016-04-07 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
GeneDx RCV000604010 SCV000726276 likely benign not specified 2018-01-04 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000526950 SCV000631741 likely benign Ehlers-Danlos syndrome, hydroxylysine-deficient 2017-05-30 criteria provided, single submitter clinical testing

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