ClinVar Miner

Submissions for variant NM_001277269.1(OTOG):c.915C>T (p.Asp305=) (rs144220847)

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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 RCV000616727 SCV000711515 likely benign not specified 2016-06-02 criteria provided, single submitter clinical testing p.Asp305Asp in exon 8 of OTOG: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 1.0% (2/194) of Luh ya (Kenyan) chromosomes by the 1000 Genomes Project ( /projects/SNP; dbSNP rs144220847) and in 0.3% (3/876) African chromosomes by the Exome Aggregation Consortium (ExAC,
Invitae RCV000938502 SCV001084313 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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