ClinVar Miner

Submissions for variant NM_080680.3(COL11A2):c.3289A>C (p.Thr1097Pro)

gnomAD frequency: 0.00020  dbSNP: rs138045609
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000437358 SCV000535065 likely benign not provided 2021-02-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000764646 SCV000895755 uncertain significance Autosomal recessive nonsyndromic hearing loss 53; Autosomal dominant nonsyndromic hearing loss 13; Otospondylomegaepiphyseal dysplasia, autosomal recessive; Otospondylomegaepiphyseal dysplasia, autosomal dominant; Fibrochondrogenesis 2 2018-10-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000437358 SCV002400591 likely benign not provided 2024-11-21 criteria provided, single submitter clinical testing

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