Submissions for variant NM_033100.4(CDHR1):c.1133G>A (p.Arg378Gln)

gnomAD frequency: 0.00121  dbSNP: rs140621272

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000382785	SCV000365423	uncertain significance	Cone-Rod Dystrophy, Recessive	2016-06-14	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000415935	SCV000493296	uncertain significance	not provided	2017-03-01	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000415935	SCV000702414	uncertain significance	not provided	2016-10-26	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000660387	SCV000782467	uncertain significance	Cone-rod dystrophy 15	2016-07-01	criteria provided, single submitter	clinical testing
Invitae	RCV000415935	SCV001601501	likely benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
GeneDx	RCV000415935	SCV002567651	likely benign	not provided	2019-05-29	criteria provided, single submitter	clinical testing	See Variant Classification Assertion Criteria.
Ambry Genetics	RCV002522171	SCV003549637	uncertain significance	Inborn genetic diseases	2021-11-09	criteria provided, single submitter	clinical testing	The c.1133G>A (p.R378Q) alteration is located in exon 11 (coding exon 11) of the CDHR1 gene. This alteration results from a G to A substitution at nucleotide position 1133, causing the arginine (R) at amino acid position 378 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.