ClinVar Miner

Submissions for variant NM_014208.3(DSPP):c.44C>T (p.Ala15Val)

dbSNP: rs121912989
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001268904 SCV001448150 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
OMIM RCV000018355 SCV000038634 pathogenic Dentinogenesis imperfecta type 2 2012-06-01 no assertion criteria provided literature only

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