ClinVar Miner

Submissions for variant NM_000439.5(PCSK1):c.1179T>C (p.Ala393=)

gnomAD frequency: 0.00068  dbSNP: rs142097318
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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 RCV000286908 SCV000459176 uncertain significance Obesity due to prohormone convertase I deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000334856 SCV000459177 uncertain significance Monogenic Non-Syndromic Obesity 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002061298 SCV002328882 benign not provided 2023-11-20 criteria provided, single submitter clinical testing

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