ClinVar Miner

Submissions for variant NM_000302.4(PLOD1):c.564G>C (p.Leu188Phe) (rs201888323)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000506105 SCV000604863 likely benign not specified 2017-01-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV000617348 SCV000739531 benign Cardiovascular phenotype 2016-03-31 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or sub-population frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Invitae RCV000529981 SCV000631727 likely benign Ehlers-Danlos syndrome, hydroxylysine-deficient 2017-10-17 criteria provided, single submitter clinical testing

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