ClinVar Miner

Submissions for variant NM_002742.3(PRKD1):c.1905+2T>A

dbSNP: rs2139090218
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Goettingen RCV002254370 SCV002525451 likely pathogenic Congenital heart defects and ectodermal dysplasia 2022-05-27 criteria provided, single submitter clinical testing

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