ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.652-1G>C

dbSNP: rs1064797115
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000487702 SCV000574782 likely pathogenic not provided 2017-03-01 criteria provided, single submitter clinical testing
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center RCV001375056 SCV001571770 likely pathogenic Hearing impairment 2021-04-12 criteria provided, single submitter clinical testing PS2_Supporting, PS3_Supporting, PM2_Moderate, PP1_Supporting, PP3_Supporting
OMIM RCV001449577 SCV001652712 pathogenic Hearing loss, autosomal dominant 37 2021-05-24 no assertion criteria provided literature only

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