ClinVar Miner

Submissions for variant NM_001369268.1(ACAN):c.5799T>G (p.Thr1933=)

dbSNP: rs3825994
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001549040 SCV001769108 benign Spondyloepiphyseal dysplasia, Kimberley type 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001549041 SCV001769109 benign Osteochondritis dissecans 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001549042 SCV001769110 benign Spondyloepimetaphyseal dysplasia, aggrecan type 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001694093 SCV001911194 benign not provided 2018-07-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001694093 SCV005294770 benign not provided criteria provided, single submitter not provided

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