ClinVar Miner

Submissions for variant NM_001379180.1(ESRRB):c.483G>A (p.Pro161=)

gnomAD frequency: 0.00006  dbSNP: rs778645048
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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, Mass General Brigham Personalized Medicine RCV000825165 SCV000966437 likely benign not specified 2017-08-23 criteria provided, single submitter clinical testing p.Pro140Pro in exon 5 of ESRRB: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 0.01% (6/66268) of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.bro adinstitute.org; dbSNP rs778645048).
Labcorp Genetics (formerly Invitae), Labcorp RCV002061143 SCV002431109 likely benign not provided 2022-07-05 criteria provided, single submitter clinical testing

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