ClinVar Miner

Submissions for variant NM_000302.4(PLOD1):c.804C>T (p.Thr268=) (rs140758113)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000254057 SCV000320105 likely benign Cardiovascular phenotype 2015-08-30 criteria provided, single submitter clinical testing
GeneDx RCV000610363 SCV000716462 likely benign not specified 2017-10-26 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.
Illumina Clinical Services Laboratory,Illumina RCV000347703 SCV000347857 uncertain significance Ehlers-Danlos syndrome, hydroxylysine-deficient 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000347703 SCV000631735 likely benign Ehlers-Danlos syndrome, hydroxylysine-deficient 2017-12-20 criteria provided, single submitter clinical testing

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