ClinVar Miner

Submissions for variant NM_000112.4(SLC26A2):c.749A>T (p.Asp250Val)

dbSNP: rs2113697665
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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 Medical Genetics, Medical University of Vienna RCV001644999 SCV001519064 likely pathogenic Diastrophic dysplasia 2021-03-10 no assertion criteria provided clinical testing

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