ClinVar Miner

Submissions for variant NM_001292063.2(OTOG):c.4238G>A (p.Arg1413Gln)

gnomAD frequency: 0.00260  dbSNP: rs143848095
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Total submissions: 5
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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 RCV000611546 SCV000711520 likely benign not specified 2014-11-24 criteria provided, single submitter clinical testing Arg1425Gln in exon 33 of OTOG: This variant is not expected to have clinical sig nificance because it has been identified in 1.0% (5/492) of African chromosomes from a broad population by the 1000 Genomes Project (http://www.ncbi.nlm.nih.gov /projects/SNP; dbSNP rs143848095).
Labcorp Genetics (formerly Invitae), Labcorp RCV000885546 SCV001028998 benign not provided 2023-09-10 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000885546 SCV001144842 likely benign not provided 2018-11-14 criteria provided, single submitter clinical testing
GeneDx RCV000885546 SCV001786295 likely benign not provided 2020-11-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002491232 SCV002803686 likely benign Autosomal recessive nonsyndromic hearing loss 18B 2021-07-28 criteria provided, single submitter clinical testing

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