ClinVar Miner

Submissions for variant NM_000282.4(PCCA):c.1409T>G (p.Leu470Arg)

dbSNP: rs2152697481
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
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001730192 SCV001977671 likely pathogenic not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001730192 SCV001979709 pathogenic not provided no assertion criteria provided clinical testing

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