ClinVar Miner

Submissions for variant NM_000187.4(HGD):c.559C>G (p.Arg187Gly)

dbSNP: rs756255206
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671938 SCV000796979 uncertain significance Alkaptonuria 2018-01-05 criteria provided, single submitter clinical testing
Department Of Human Genetics, Institute Of Clinical And Translational Research, Biomedical Research Center, Slovak Academy Of Sciences RCV000671938 SCV004100985 pathogenic Alkaptonuria no assertion criteria provided research The variant was originally described in AKU patient in PMID:19862842. nucleotide change was deduced. It has been submitted to the HGD gene mutation database (http://hgddatabase.cvtisr.sk/, DB-ID: AKU_00061).

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