ClinVar Miner

Submissions for variant NM_001379180.1(ESRRB):c.79A>G (p.Arg27Gly)

gnomAD frequency: 0.00137  dbSNP: rs143477571
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Total submissions: 6
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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 RCV000150660 SCV000198006 benign not specified 2013-08-16 criteria provided, single submitter clinical testing Arg6Gly in exon 4 of ESRRB: This variant is not expected to have clinical signif icance because it has been identified in 1.7% (10/572) of Asian chromosomes by t he 1000 Genomes Project (dbSNP rs143477571)
Eurofins Ntd Llc (ga) RCV000150660 SCV000338972 benign not specified 2016-02-04 criteria provided, single submitter clinical testing
GeneDx RCV000150660 SCV000730665 benign not specified 2017-10-03 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000885398 SCV001028838 benign not provided 2023-12-12 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001115577 SCV001273564 benign Autosomal recessive nonsyndromic hearing loss 35 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Breakthrough Genomics, Breakthrough Genomics RCV000885398 SCV005295048 benign not provided criteria provided, single submitter not provided

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