ClinVar Miner

Submissions for variant NM_000302.4(PLOD1):c.1083C>T (p.Ala361=) (rs1159010003)

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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 RCV000619139 SCV000739555 likely benign Cardiovascular phenotype 2017-06-03 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV000634761 SCV000756104 likely benign Ehlers-Danlos syndrome, hydroxylysine-deficient 2017-11-15 criteria provided, single submitter clinical testing

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