ClinVar Miner

Submissions for variant NM_080680.3(COL11A2):c.1726A>G (p.Thr576Ala)

gnomAD frequency: 0.00004  dbSNP: rs779116250
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002032090 SCV002313331 likely benign not provided 2024-05-17 criteria provided, single submitter clinical testing
GeneDx RCV002032090 SCV002567684 uncertain significance not provided 2022-08-10 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function
Fulgent Genetics, Fulgent Genetics RCV002486792 SCV002783352 uncertain significance Autosomal recessive nonsyndromic hearing loss 53; Autosomal dominant nonsyndromic hearing loss 13; Otospondylomegaepiphyseal dysplasia, autosomal recessive; Otospondylomegaepiphyseal dysplasia, autosomal dominant; Fibrochondrogenesis 2 2022-02-11 criteria provided, single submitter clinical testing

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