ClinVar Miner

Submissions for variant NM_001369268.1(ACAN):c.2514G>A (p.Ser838=)

dbSNP: rs3743399
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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 RCV001548928 SCV001768940 benign Spondyloepiphyseal dysplasia, Kimberley type 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001548929 SCV001768941 benign Osteochondritis dissecans 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001548930 SCV001768942 benign Spondyloepimetaphyseal dysplasia, aggrecan type 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001619971 SCV001844226 benign not provided 2018-07-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001619971 SCV005294750 benign not provided criteria provided, single submitter not provided

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