ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.12461G>A (p.Arg4154His)

gnomAD frequency: 0.00001  dbSNP: rs2091413681
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ClinVar version:
Total submissions: 1
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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 RCV003322082 SCV004026143 uncertain significance not provided 2022-11-01 criteria provided, single submitter clinical testing PM5, PM2_SUP

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