ClinVar Miner

Submissions for variant NM_000439.5(PCSK1):c.1095+1G>A

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003326626 SCV004032611 likely pathogenic not provided 2023-08-01 criteria provided, single submitter clinical testing PCSK1: PVS1:Strong, PM2, PS3:Supporting
OMIM RCV002306254 SCV002600107 pathogenic Obesity due to prohormone convertase I deficiency 2022-11-08 no assertion criteria provided literature only

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