ClinVar Miner

Submissions for variant NM_000302.4(PLOD1):c.555G>T (p.Lys185Asn) (rs142978362)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000442453 SCV000604862 benign not specified 2016-03-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000249131 SCV000319540 benign Cardiovascular phenotype 2015-04-09 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000488399 SCV000574744 likely benign not provided 2018-09-30 criteria provided, single submitter clinical testing
GeneDx RCV000442453 SCV000514183 likely benign not specified 2017-12-12 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 RCV000556211 SCV000631726 likely benign Ehlers-Danlos syndrome, hydroxylysine-deficient 2017-12-21 criteria provided, single submitter clinical testing

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