ClinVar Miner

Submissions for variant NM_001369268.1(ACAN):c.2737C>A (p.Pro913Thr)

gnomAD frequency: 0.07950  dbSNP: rs35430524
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001674925 SCV001890803 benign not provided 2018-07-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253947 SCV002524326 benign Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253946 SCV002524329 benign Spondyloepimetaphyseal dysplasia, aggrecan type 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253945 SCV002524330 benign Spondyloepiphyseal dysplasia, Kimberley type 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001674925 SCV005294752 benign not provided criteria provided, single submitter not provided

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