Submissions for variant NM_013296.5(GPSM2):c.1569TTC[1] (p.Ser525del)

dbSNP: rs35029887

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000218159	SCV000269139	benign	not specified	2014-10-31	criteria provided, single submitter	clinical testing	Ser525del in exon 13 of GPSM2: This variant is a deletion of 1 amino acid at pos ition 525 and is not predicted to alter the protein reading-frame or impact the protein. It has been identified in in 28% (2331/8254) of European American chrom osomes and 56% (2409/4266) of African American chromosomes by the NHLBI Exome Se quencing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs35029887).
PreventionGenetics, part of Exact Sciences	RCV000218159	SCV000311961	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV004577731	SCV000347063	likely benign	Hearing loss, autosomal recessive	2016-06-14	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000711834	SCV000842239	benign	not provided	2018-05-09	criteria provided, single submitter	clinical testing
GeneDx	RCV000711834	SCV001828599	benign	not provided	2016-01-14	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001701798	SCV001933935	benign	Chudley-McCullough syndrome	2021-08-10	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000711834	SCV002403180	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing