ClinVar Miner

Submissions for variant NM_080680.3(COL11A2):c.2737-4C>T

gnomAD frequency: 0.00004  dbSNP: rs1322401943
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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 RCV002192969 SCV002356060 likely benign not provided 2024-12-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494084 SCV002801671 likely benign Autosomal recessive nonsyndromic hearing loss 53; Autosomal dominant nonsyndromic hearing loss 13; Otospondylomegaepiphyseal dysplasia, autosomal recessive; Otospondylomegaepiphyseal dysplasia, autosomal dominant; Fibrochondrogenesis 2 2021-11-11 criteria provided, single submitter clinical testing

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