ClinVar Miner

Submissions for variant NM_004817.4(TJP2):c.2708A>C (p.Tyr903Ser)

gnomAD frequency: 0.00003  dbSNP: rs775354216
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center RCV001375071 SCV001571840 uncertain significance Hearing impairment 2021-04-12 criteria provided, single submitter clinical testing PM2_Moderate, PP3_Supporting, BP5_Supporting
GeneDx RCV001762658 SCV001998280 uncertain significance not provided 2023-11-01 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge

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