ClinVar Miner

Submissions for variant NM_000187.4(HGD):c.753C>T (p.Gly251=)

dbSNP: rs1357020990
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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 RCV001075890 SCV001241531 likely pathogenic Alkaptonuria 2019-12-19 criteria provided, single submitter research ACMG Guidelines, 2015 criteria: PS3, PM2, PM3, PP4
Department Of Human Genetics, Institute Of Clinical And Translational Research, Biomedical Research Center, Slovak Academy Of Sciences RCV001075890 SCV004098704 pathogenic Alkaptonuria no assertion criteria provided research The variant was originally described in AKU patients in PMID:33621656 and PMID: 34504318. It has been submitted to the HGD gene mutation database (, DB-ID: AKU_00221).

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