Submissions for variant NM_001277269.1(OTOG):c.7571G>A (p.Arg2524His) (rs114242958)

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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	RCV000222561	SCV000269524	benign	not specified	2014-11-24	criteria provided, single submitter	clinical testing	Arg2524His in exon 44 of OTOG: This variant is not expected to have clinical sig nificance because it has been identified in 13.6% (24/176) of Yoruba (Nigerian) chromosomes from a broad population by the 1000 Genomes Project (http://www.ncbi .nlm.nih.gov/projects/SNP; dbSNP rs114242958).
GeneDx	RCV000222561	SCV000723946	benign	not specified	2017-10-23	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.
Invitae	RCV000956914	SCV001103706	benign	not provided	2019-12-31	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000956914	SCV001144848	benign	not provided	2018-08-31	criteria provided, single submitter	clinical testing

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