Submissions for variant NM_013296.5(GPSM2):c.1820C>T (p.Ser607Phe)

gnomAD frequency: 0.00800  dbSNP: rs35322815

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000150796	SCV000198316	benign	not specified	2012-05-07	criteria provided, single submitter	clinical testing	Ser607Phe in Exon 15 of GPSM2: This variant is not expected to have clinical sig nificance because it has been identified in 2.5% (92/3738) of African American c hromosomes from a broad population by the NHLBI Exome Sequencing Project (http:/ /evs.gs.washington.edu/EVS; dbSNP rs35322815).
GeneDx	RCV000150796	SCV000525889	benign	not specified	2016-06-17	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.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000514772	SCV000609779	likely benign	not provided	2017-05-04	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000514772	SCV001122722	benign	not provided	2025-01-21	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000514772	SCV001144078	benign	not provided	2019-03-04	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000514772	SCV005259235	likely benign	not provided		criteria provided, single submitter	not provided