Submissions for variant NM_017909.4(RMND1):c.1085G>A (p.Arg362His)

gnomAD frequency: 0.00091  dbSNP: rs142588921

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000521621	SCV000616854	likely benign	not provided	2020-12-22	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV000509317	SCV001522894	uncertain significance	Combined oxidative phosphorylation defect type 11	2019-03-28	criteria provided, single submitter	clinical testing	This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Mayo Clinic Laboratories, Mayo Clinic	RCV000521621	SCV001714198	uncertain significance	not provided	2019-05-06	criteria provided, single submitter	clinical testing
Invitae	RCV000521621	SCV002366055	benign	not provided	2024-01-18	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000521621	SCV004160486	likely benign	not provided	2022-11-01	criteria provided, single submitter	clinical testing	RMND1: BP4
PreventionGenetics, part of Exact Sciences	RCV003902814	SCV004718114	likely benign	RMND1-related condition	2024-01-05	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
GenomeConnect, ClinGen	RCV000509317	SCV000606877	not provided	Combined oxidative phosphorylation defect type 11		no assertion provided	phenotyping only	GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.