ClinVar Miner

Submissions for variant NM_001256317.3(TMPRSS3):c.496C>T (p.Arg166Trp)

gnomAD frequency: 0.00001  dbSNP: rs781395690
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000513636 SCV000609058 uncertain significance not provided 2017-03-01 criteria provided, single submitter clinical testing
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center RCV001375051 SCV001571765 uncertain significance Hearing impairment 2021-04-12 criteria provided, single submitter clinical testing PM2_Moderate, BP4_Supporting
Fulgent Genetics, Fulgent Genetics RCV002490865 SCV002777638 uncertain significance Autosomal recessive nonsyndromic hearing loss 8 2021-10-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000513636 SCV003795831 likely benign not provided 2024-01-08 criteria provided, single submitter clinical testing
GeneDx RCV000513636 SCV005078357 uncertain significance not provided 2024-05-03 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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