Submissions for variant NM_001286445.3(RIPOR2):c.1764T>C (p.Asn588=)

gnomAD frequency: 0.00378  dbSNP: rs145837095

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000964175	SCV000718741	benign	not provided	2018-06-27	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000614593	SCV000863250	likely benign	not specified	2018-09-11	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000614593	SCV000967112	benign	not specified	2017-08-23	criteria provided, single submitter	clinical testing	p.Asn609Asn in exon 14 of FAM65B: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wit hin the splice consensus sequence, and has been identified in 0.51% (326/64054) of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.b roadinstitute.org; dbSNP rs145837095).
Invitae	RCV000964175	SCV001111364	benign	not provided	2024-01-18	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000614593	SCV001474657	benign	not specified	2020-08-05	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000964175	SCV001745926	likely benign	not provided	2021-06-01	criteria provided, single submitter	clinical testing