ClinVar Miner

Submissions for variant NM_080680.3(COL11A2):c.4587G>A (p.Pro1529=)

gnomAD frequency: 0.00010  dbSNP: rs765931315
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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 RCV002183099 SCV002425894 likely benign not provided 2025-01-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002508056 SCV002804118 likely benign Autosomal recessive nonsyndromic hearing loss 53; Autosomal dominant nonsyndromic hearing loss 13; Otospondylomegaepiphyseal dysplasia, autosomal recessive; Otospondylomegaepiphyseal dysplasia, autosomal dominant; Fibrochondrogenesis 2 2022-03-17 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV005058057 SCV005726524 likely benign not specified 2024-11-19 criteria provided, single submitter clinical testing

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