ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.3939G>A (p.Ala1313=) (rs149566576)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000730084 SCV000857795 uncertain significance not provided 2017-11-08 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000041536 SCV000065231 likely benign not specified 2010-08-05 criteria provided, single submitter clinical testing Ala1313Ala in exon 32 of OTOF: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located nea r a splice junction.

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