ClinVar Miner

Submissions for variant NM_018671.5(UNC45A):c.1339_1340delinsCT (p.Ala447Leu)

dbSNP: rs2036591621
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network, NIH RCV001255989 SCV001432770 uncertain significance Diarrhea; Increased susceptibility to fractures; UNC45A-associated Cholestasis; Impaired Hearing 2020-05-05 criteria provided, single submitter clinical testing

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