ClinVar Miner

Submissions for variant NM_080680.3(COL11A2):c.4230+13C>G

gnomAD frequency: 0.00019  dbSNP: rs200051654
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001722648 SCV000718224 likely benign not provided 2018-03-28 criteria provided, single submitter clinical testing
Invitae RCV001722648 SCV002446245 likely benign not provided 2024-01-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498916 SCV002813178 likely benign Autosomal recessive nonsyndromic hearing loss 53; Autosomal dominant nonsyndromic hearing loss 13; Otospondylomegaepiphyseal dysplasia, autosomal recessive; Otospondylomegaepiphyseal dysplasia, autosomal dominant; Fibrochondrogenesis 2 2021-08-03 criteria provided, single submitter clinical testing

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