ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.5097C>T (p.Ile1699=) (rs12386239)

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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, Partners HealthCare Personalized Medicine RCV000041564 SCV000065259 benign not specified 2011-04-27 criteria provided, single submitter clinical testing This variant is not expected to have clinical significance because it does not a lter an amino acid residue, is not located near a splice junction and has been r ecorded in dbSNP as a high frequency polymorphism in Black populations (rs123862 39. Yoruban = 10% [23/224 chromosomes], Luhya in Webuye, Kenya = 18% [32/180 chr omosomes]).
GeneDx RCV000041564 SCV000718769 benign not specified 2017-10-05 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Athena Diagnostics Inc RCV000712479 SCV000842980 benign not provided 2018-05-23 criteria provided, single submitter clinical testing
Invitae RCV000712479 SCV001112869 benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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