ClinVar Miner

Submissions for variant NM_000439.5(PCSK1):c.1993C>G (p.Gln665Glu) (rs6234)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000342685 SCV000459160 likely benign Proprotein convertase 1/3 deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000397598 SCV000459161 likely benign Monogenic Non-Syndromic Obesity 2016-06-14 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000730963 SCV000858732 benign not specified 2017-12-19 criteria provided, single submitter clinical testing

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