ClinVar Miner

Submissions for variant NM_001277269.1(OTOG):c.2597+9C>T (rs528157125)

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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, Partners HealthCare Personalized Medicine RCV000213151 SCV000270655 likely benign not specified 2015-07-16 criteria provided, single submitter clinical testing c.2597+9C>T in intron 20 of OTOG: This variant is not expected to have clinical significance because it is not located within the conserved splice consensus seq uence. It has been identified in 0.2% (2/914) of African chromosomes by the Exom e Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs52815712 5).
Invitae RCV000930614 SCV001076269 likely benign not provided 2018-06-08 criteria provided, single submitter clinical testing

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