ClinVar Miner

Submissions for variant NM_000187.4(HGD):c.1111dup (p.His371fs)

dbSNP: rs397515516
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000055777 SCV000485177 pathogenic Alkaptonuria 2015-12-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000055777 SCV002805875 pathogenic Alkaptonuria 2021-09-20 criteria provided, single submitter clinical testing
GeneReviews RCV000055777 SCV000086739 not provided Alkaptonuria no assertion provided literature only 1 of 4 founder variants in the Slovak population
Department Of Human Genetics, Institute Of Clinical And Translational Research, Biomedical Research Center, Slovak Academy Of Sciences RCV000055777 SCV004098952 pathogenic Alkaptonuria no assertion criteria provided research The variant was originally described in AKU patient in PMID:10482952. It has been submitted to the HGD gene mutation database (http://hgddatabase.cvtisr.sk/, DB-ID: AKU_00098).

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