ClinVar Miner

Submissions for variant NM_001369268.1(ACAN):c.1515G>A (p.Ala505=)

gnomAD frequency: 0.02963  dbSNP: rs34957282
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000334362 SCV000336937 benign not specified 2015-11-18 criteria provided, single submitter clinical testing
GeneDx RCV001683155 SCV001899155 benign not provided 2018-07-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001683155 SCV002434112 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253365 SCV002524293 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 RCV002253364 SCV002524295 benign Spondyloepimetaphyseal dysplasia, aggrecan type 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253363 SCV002524296 benign Spondyloepiphyseal dysplasia, Kimberley type 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001683155 SCV005292553 benign not provided criteria provided, single submitter not provided

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