ClinVar Miner

Submissions for variant NM_000439.5(PCSK1):c.*1041T>A

gnomAD frequency: 0.31161  dbSNP: rs17085675
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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 RCV000374499 SCV000459132 likely benign Monogenic Non-Syndromic Obesity 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000282367 SCV000459133 likely benign Obesity due to prohormone convertase I deficiency 2016-06-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004705399 SCV005221134 likely benign not provided criteria provided, single submitter not provided

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