ClinVar Miner

Submissions for variant NM_001292063.2(OTOG):c.600CTT[1] (p.Phe202del) (rs753906203)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000732183 SCV000860103 uncertain significance not provided 2018-03-27 criteria provided, single submitter clinical testing
Baylor Genetics RCV001336339 SCV001529700 uncertain significance Deafness, autosomal recessive 18b 2018-08-09 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV001449713 SCV001652969 uncertain significance not specified 2021-02-17 criteria provided, single submitter clinical testing The p.Phe214del variant in OTOG has not been previously reported in individuals with hearing loss but has been identified in 0.18% (125/71330) of European chromosomes by gnomAD ( The variant has been reported in ClinVar (Variation ID 596372). This variant is a an in-frame deletion of one amino acid at position 214 and is not predicted to alter the protein reading frame. Thus, it is unclear if this deletion will impact the protein. In summary, the clinical significance of this variant is uncertain. ACMG/AMP criteria applied: BS1_Supporting.

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