ClinVar Miner

Submissions for variant NM_174878.3(CLRN1):c.2T>C (p.Met1Thr)

dbSNP: rs1553776135
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671180 SCV000796131 likely pathogenic Usher syndrome type 3 2017-12-07 criteria provided, single submitter clinical testing
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center RCV001375069 SCV001571838 likely pathogenic Hearing impairment 2021-04-12 criteria provided, single submitter clinical testing PVS1_Strong, PM2_Moderate

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