ClinVar Miner

Submissions for variant NM_001369268.1(ACAN):c.7451C>T (p.Ala2484Val)

gnomAD frequency: 0.00006  dbSNP: rs543497679
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000899386 SCV001043648 likely benign not provided 2025-01-16 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495443 SCV002802137 likely benign Spondyloepiphyseal dysplasia, Kimberley type; Spondyloepimetaphyseal dysplasia, aggrecan type; Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans 2021-12-16 criteria provided, single submitter clinical testing

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