Submissions for variant NM_004230.4(S1PR2):c.919A>C (p.Arg307=)

dbSNP: rs2116942

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000599846	SCV000713588	benign	not specified	2017-08-23	criteria provided, single submitter	clinical testing	p.Arg307Arg in exon 2 of S1PR2: 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 in 73.32% (6474/8830) o f African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.bro adinstitute.org; dbSNP rs2116942).
GeneDx	RCV000599846	SCV000717033	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.
Genome-Nilou Lab	RCV001796134	SCV002033058	benign	Autosomal recessive nonsyndromic hearing loss 68	2021-11-07	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002065202	SCV002428099	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV002065202	SCV005311920	benign	not provided		criteria provided, single submitter	not provided