Submissions for variant NM_004230.4(S1PR2):c.857T>C (p.Val286Ala)

gnomAD frequency: 0.00652  dbSNP: rs117064827

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000604582	SCV000713589	benign	not specified	2017-08-23	criteria provided, single submitter	clinical testing	p.Val286Ala in exon 2 of S1PR2: This variant is not expected to have clinical si gnificance because it has been identified in 1.03% (663/64316) of European chrom osomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org ; dbSNP rs117064827).
GeneDx	RCV000843700	SCV000985737	likely benign	not provided	2018-03-19	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.
Invitae	RCV000843700	SCV001024967	benign	not provided	2024-01-15	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000604582	SCV001476960	benign	not specified	2020-02-04	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000843700	SCV004139498	benign	not provided	2022-10-01	criteria provided, single submitter	clinical testing	S1PR2: BS1, BS2