ClinVar Miner

Submissions for variant NM_000193.4(SHH):c.86G>C (p.Gly29Ala)

gnomAD frequency: 0.00001  dbSNP: rs1313527438
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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 Leipzig Medical Center RCV001823044 SCV002072578 uncertain significance Failure to thrive; Vomiting; High palate; Anemia; Diarrhea; Axial hypotonia; Macrotia; Moderate global developmental delay; Elevated circulating alanine aminotransferase concentration; Elevated circulating aspartate aminotransferase concentration 2022-01-31 criteria provided, single submitter clinical testing _x000D_ Criteria applied: PM1_SUP, PM2_SUP, PP3

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