ClinVar Miner

Submissions for variant NM_177924.5(ASAH1):c.66G>C (p.Gln22His)

dbSNP: rs1589012017
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Medical Affairs, Dicerna Pharmaceuticals RCV001003297 SCV001161380 uncertain significance Farber lipogranulomatosis 2019-06-18 criteria provided, single submitter literature only Variant of uncertain significance is appropriate for variant, Q22H (c.66G>C). This variant has been identified in homozygous formation in fibroblasts isolated from a patient diagnosed with Farber disease. There is no further clinical description or functional characterization of this variant.

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