ClinVar Miner

Submissions for variant NM_000439.5(PCSK1):c.1923G>A (p.Leu641=)

gnomAD frequency: 0.00661  dbSNP: rs6236
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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 RCV000298180 SCV000459162 uncertain significance Monogenic Non-Syndromic Obesity 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000355401 SCV000459163 uncertain significance Obesity due to prohormone convertase I deficiency 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000969200 SCV001116699 benign not provided 2024-01-19 criteria provided, single submitter clinical testing

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