ClinVar Miner

Submissions for variant NM_000187.4(HGD):c.376_377del (p.Lys126fs)

dbSNP: rs1057516976
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000411862 SCV000486532 likely pathogenic Alkaptonuria 2016-06-21 criteria provided, single submitter clinical testing
Department Of Human Genetics, Institute Of Clinical And Translational Research, Biomedical Research Center, Slovak Academy Of Sciences RCV000411862 SCV004101009 pathogenic Alkaptonuria no assertion criteria provided research The variant was originally described in AKU patient in PMID:19862842. It has been submitted to the HGD gene mutation database (, DB-ID: AKU_00034).

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