ClinVar Miner

Submissions for variant NM_004716.4(PCSK7):c.1678C>G (p.Arg560Gly)

gnomAD frequency: 0.00023  dbSNP: rs202038275
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV001375858 SCV001572785 uncertain significance Pericallosal lipoma; Skin tags; Midline facial cleft criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004692673 SCV005191857 uncertain significance not provided criteria provided, single submitter not provided

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