ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.3076A>T (p.Arg1026Trp)

gnomAD frequency: 0.00434  dbSNP: rs145239283
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Total submissions: 3
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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 RCV000041517 SCV000065212 benign not specified 2011-09-25 criteria provided, single submitter clinical testing Arg1026Trp in exon 25 of OTOF: This variant is not expected to have clinical sig nificance because it has been identified in dbSNP in 0.4% (18/4544) of control c hromosomes (rs145239283).
Invitae RCV000894084 SCV001038049 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000894084 SCV001908213 benign not provided 2020-02-19 criteria provided, single submitter clinical testing

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