ClinVar Miner

Submissions for variant NM_001379180.1(ESRRB):c.414G>A (p.Val138=)

gnomAD frequency: 0.00073  dbSNP: rs141586518
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Total submissions: 3
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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 RCV000038139 SCV000061805 benign not specified 2015-02-18 criteria provided, single submitter clinical testing p.Val117Val in exon 4 of ESRRB: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified 0.2% (25/10270) of Afri can chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinst itute.org; dbSNP rs141586518).
Eurofins Ntd Llc (ga) RCV000724814 SCV000230234 uncertain significance not provided 2015-05-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000724814 SCV004275823 benign not provided 2024-01-29 criteria provided, single submitter clinical testing

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