ClinVar Miner

Submissions for variant NM_001379180.1(ESRRB):c.949G>A (p.Asp317Asn)

gnomAD frequency: 0.00046  dbSNP: rs145982062
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Total submissions: 5
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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 RCV000825166 SCV000966438 likely benign not specified 2017-08-23 criteria provided, single submitter clinical testing p.Asp296Asn in exon 8 of ESRRB: This variant is not expected to have clinical si gnificance because it has been identified in 0.60% (21/3518) of Latino chromosom es by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; db SNP rs145982062).
GeneDx RCV001577741 SCV001805173 likely benign not provided 2021-04-13 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001577741 SCV005217760 likely benign not provided criteria provided, single submitter not provided
Ambry Genetics RCV000825166 SCV005997056 uncertain significance not specified 2025-02-28 criteria provided, single submitter clinical testing The c.886G>A (p.D296N) alteration is located in exon 8 (coding exon 5) of the ESRRB gene. This alteration results from a G to A substitution at nucleotide position 886, causing the aspartic acid (D) at amino acid position 296 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003975336 SCV004795553 likely benign ESRRB-related disorder 2022-10-14 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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