ClinVar Miner

Submissions for variant NM_015629.4(PRPF31):c.178-1G>A

dbSNP: rs2146393934
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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 RCV001579635 SCV001807961 pathogenic not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001579635 SCV001953028 pathogenic not provided no assertion criteria provided clinical testing

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