ClinVar Miner

Submissions for variant NM_000439.5(PCSK1):c.1414A>G (p.Asn472Asp)

gnomAD frequency: 0.00011  dbSNP: rs200969251
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000270763 SCV000459170 uncertain significance Obesity due to prohormone convertase I deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000328137 SCV000459171 uncertain significance Monogenic Non-Syndromic Obesity 2016-06-14 criteria provided, single submitter clinical testing

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