ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.2037C>T (p.Ala679=)

dbSNP: rs397517937
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Total submissions: 2
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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 RCV000041479 SCV000065174 likely benign not specified 2011-01-07 criteria provided, single submitter clinical testing Ala679Ala in exon 17 of OTOF: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located near a splice junction.
Labcorp Genetics (formerly Invitae), Labcorp RCV003764703 SCV004683430 likely benign not provided 2024-08-22 criteria provided, single submitter clinical testing

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