Submissions for variant NM_001379180.1(ESRRB):c.1219C>T (p.Pro407Ser)

gnomAD frequency: 0.06008  dbSNP: rs61742642

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000038134	SCV000061800	benign	not specified	2012-05-07	criteria provided, single submitter	clinical testing	Pro386Ser in Exon 09 of ESRRB: This variant is not expected to have clinical sig nificance because it has been identified in 6.9% (481/7020) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS; dbSNP rs35774316).
PreventionGenetics, part of Exact Sciences	RCV000038134	SCV000310384	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000999974	SCV000388903	likely benign	Autosomal recessive nonsyndromic hearing loss 35	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000999974	SCV000603486	benign	Autosomal recessive nonsyndromic hearing loss 35	2023-11-29	criteria provided, single submitter	clinical testing
GeneDx	RCV000038134	SCV000717822	benign	not specified	2017-05-09	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.
Athena Diagnostics	RCV000991971	SCV001143886	benign	not provided	2018-09-12	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000991971	SCV002446038	benign	not provided	2025-01-30	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000991971	SCV005217761	likely benign	not provided		criteria provided, single submitter	not provided