ClinVar Miner

Submissions for variant NM_018671.5(UNC45A):c.710T>C (p.Leu237Pro)

dbSNP: rs1291676751
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network, NIH RCV001255988 SCV001432769 uncertain significance Diarrhea; Increased susceptibility to fractures; UNC45A-associated Cholestasis; Impaired Hearing 2020-05-05 criteria provided, single submitter clinical testing
OMIM RCV003984856 SCV004800839 pathogenic Osteootohepatoenteric syndrome 2024-03-11 no assertion criteria provided literature only

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