ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.*220C>T

gnomAD frequency: 0.00356  dbSNP: rs72853716
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001136688 SCV001296546 likely benign Autosomal recessive nonsyndromic hearing loss 9 2017-11-16 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx RCV001570639 SCV001794968 likely benign not provided 2018-09-16 criteria provided, single submitter clinical testing

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