ClinVar Miner

Submissions for variant NM_002819.5(PTBP1):c.1A>G (p.Met1Val)

dbSNP: rs2145008460
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 RCV001579946 SCV001809132 uncertain significance not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001579946 SCV001954979 uncertain significance not provided no assertion criteria provided clinical testing

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