ClinVar Miner

Submissions for variant NM_080680.3(COL11A2):c.2589dup (p.Ser864fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005039675 SCV005669011 likely pathogenic Autosomal recessive nonsyndromic hearing loss 53; Autosomal dominant nonsyndromic hearing loss 13; Otospondylomegaepiphyseal dysplasia, autosomal recessive; Otospondylomegaepiphyseal dysplasia, autosomal dominant; Fibrochondrogenesis 2 2024-03-28 criteria provided, single submitter clinical testing

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