ClinVar Miner

Submissions for variant NM_001369268.1(ACAN):c.3294C>T (p.Thr1098=)

gnomAD frequency: 0.41213  dbSNP: rs62023519
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001549028 SCV001769096 benign Spondyloepiphyseal dysplasia, Kimberley type 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001549029 SCV001769097 benign Osteochondritis dissecans 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001549030 SCV001769098 benign Spondyloepimetaphyseal dysplasia, aggrecan type 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001615298 SCV001837800 benign not provided 2018-07-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001615298 SCV005294758 benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001796601 SCV002035059 benign not specified no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001796601 SCV002036192 benign not specified no assertion criteria provided clinical testing

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