Submissions for variant NM_005866.4(SIGMAR1):c.6G>A (p.Gln2=)

gnomAD frequency: 0.00208  dbSNP: rs541251697

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000546932	SCV000641269	benign	Autosomal recessive distal spinal muscular atrophy 2; Amyotrophic lateral sclerosis type 16	2025-01-27	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV001287959	SCV001474729	benign	not specified	2020-05-21	criteria provided, single submitter	clinical testing
GeneDx	RCV001561644	SCV001784280	likely benign	not provided	2020-11-30	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002367851	SCV002665703	likely benign	Inborn genetic diseases	2019-07-11	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen	RCV001561644	SCV004157676	likely benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	SIGMAR1: BP4, BP7
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001561644	SCV001807671	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV001561644	SCV001926048	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001561644	SCV001966545	likely benign	not provided		no assertion criteria provided	clinical testing