ClinVar Miner

Submissions for variant NM_001292063.2(OTOG):c.8241C>T (p.Cys2747=)

gnomAD frequency: 0.35674  dbSNP: rs10832824
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000218158 SCV000269531 benign not specified 2014-11-24 criteria provided, single submitter clinical testing Cys2759Cys in exon 51 of OTOG: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 51.0% (99/194) of L uhya (Kenyan) chromosomes from a broad population by the 1000 Genomes Project (h ttp://www.ncbi.nlm.nih.gov/projects/SNP; dbSNP rs10832824).
GeneDx RCV000218158 SCV000717096 benign not specified 2017-05-09 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genome-Nilou Lab RCV001421024 SCV001623498 benign Autosomal recessive nonsyndromic hearing loss 18B 2021-05-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002054395 SCV002428395 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002054395 SCV005324723 benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000218158 SCV001744103 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000218158 SCV001958651 benign not specified no assertion criteria provided clinical testing

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