ClinVar Miner

Submissions for variant NM_000439.5(PCSK1):c.-140C>T

gnomAD frequency: 0.00029  dbSNP: rs142567487
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000292648 SCV000459196 uncertain significance Obesity due to prohormone convertase I deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000349980 SCV000459197 uncertain significance Monogenic Non-Syndromic Obesity 2016-06-14 criteria provided, single submitter clinical testing

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