ClinVar Miner

Submissions for variant NM_000439.5(PCSK1):c.-21G>A

gnomAD frequency: 0.00041  dbSNP: rs188670849
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000320312 SCV000459188 uncertain significance Obesity due to prohormone convertase I deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000358669 SCV000459189 uncertain significance Monogenic Non-Syndromic Obesity 2016-06-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004695890 SCV005189315 uncertain significance not provided criteria provided, single submitter not provided

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