ClinVar Miner

Submissions for variant NM_000187.4(HGD):c.413G>A (p.Cys138Tyr)

dbSNP: rs1941316527
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics RCV001194658 SCV001364395 likely pathogenic Alkaptonuria 2020-03-03 criteria provided, single submitter clinical testing Severe damage of the musculoskeletal system

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