ClinVar Miner

Submissions for variant NM_001369268.1(ACAN):c.4523A>C (p.Glu1508Ala)

dbSNP: rs2882676
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000353807 SCV000336170 benign not specified 2015-11-09 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001549034 SCV001769102 benign Spondyloepiphyseal dysplasia, Kimberley type 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001549035 SCV001769103 benign Osteochondritis dissecans 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001549036 SCV001769104 benign Spondyloepimetaphyseal dysplasia, aggrecan type 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001711855 SCV001944705 benign not provided 2018-07-05 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 17317784)
Breakthrough Genomics, Breakthrough Genomics RCV001711855 SCV005294762 benign not provided criteria provided, single submitter not provided

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