ClinVar Miner

Submissions for variant NM_000302.4(PLOD1):c.2075C>T (p.Pro692Leu) (rs557317492)

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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 RCV000246181 SCV000319963 likely benign Cardiovascular phenotype 2018-04-17 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Rarity in general population databases (dbsnp, esp, 1000 genomes),Insufficient or conflicting evidence,In silico models in agreement (benign),Insufficient evidence
Illumina Clinical Services Laboratory,Illumina RCV000301074 SCV000347928 uncertain significance Ehlers-Danlos syndrome, hydroxylysine-deficient 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000859495 SCV000631716 likely benign not provided 2018-11-16 criteria provided, single submitter clinical testing

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