ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.1051G>C (p.Ala351Pro)

dbSNP: rs982005875
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003238650 SCV002011214 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV003238650 SCV005194688 uncertain significance not provided criteria provided, single submitter not provided

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