ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.1580-7G>T

gnomAD frequency: 0.00309  dbSNP: rs116430138
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Total submissions: 4
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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 RCV000151609 SCV000199798 benign not specified 2012-04-30 criteria provided, single submitter clinical testing 1580-7G>T in Intron 14 of OTOF: This variant is not expected to have clinical si gnificance because it has been identified in 0.7% (27/3738) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs116430138).
Labcorp Genetics (formerly Invitae), Labcorp RCV000971472 SCV001119124 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000971472 SCV001802597 likely benign not provided 2020-10-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000971472 SCV005263186 likely benign not provided criteria provided, single submitter not provided

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