ClinVar Miner

Submissions for variant NM_000187.4(HGD):c.342+1G>A

dbSNP: rs397515518
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000055781 SCV000485143 likely pathogenic Alkaptonuria 2016-03-09 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000055781 SCV005658890 pathogenic Alkaptonuria 2024-01-23 criteria provided, single submitter clinical testing
GeneReviews RCV000055781 SCV000086743 not provided Alkaptonuria no assertion provided literature only Mutational hot spot in the Slovak population
Department Of Human Genetics, Institute Of Clinical And Translational Research, Biomedical Research Center, Slovak Academy Of Sciences RCV000055781 SCV004098962 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_00025).

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