ClinVar Miner

Submissions for variant NM_000187.4(HGD):c.131T>C (p.Leu44Pro)

dbSNP: rs1708095030
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Total submissions: 2
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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 RCV001194657 SCV001364394 likely pathogenic Alkaptonuria 2020-03-03 criteria provided, single submitter clinical testing Severe damage of the musculoskeletal system
Department Of Human Genetics, Institute Of Clinical And Translational Research, Biomedical Research Center, Slovak Academy Of Sciences RCV001194657 SCV004098925 pathogenic Alkaptonuria no assertion criteria provided research The variant was originally described in AKU patient in PMID:34504318 and PMID:33621656. It has been submitted to the HGD gene mutation database (, DB-ID: AKU_00226).

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