Submissions for variant NM_005866.4(SIGMAR1):c.5A>C (p.Gln2Pro)

gnomAD frequency: 0.17661  dbSNP: rs1800866

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Athena Diagnostics	RCV000713286	SCV000843875	benign	not provided	2017-11-17	criteria provided, single submitter	clinical testing
Mendelics	RCV000988175	SCV001137798	benign	Autosomal recessive distal spinal muscular atrophy 2	2019-05-28	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001515376	SCV001723434	benign	Autosomal recessive distal spinal muscular atrophy 2; Amyotrophic lateral sclerosis type 16	2025-02-04	criteria provided, single submitter	clinical testing
GeneDx	RCV000713286	SCV001758639	benign	not provided	2018-07-03	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 31159747, 30917570, 21549171, 22818711, 9857962, 22561649)
Breakthrough Genomics, Breakthrough Genomics	RCV000713286	SCV005272551	benign	not provided		criteria provided, single submitter	not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001579900	SCV001808931	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV001579900	SCV001920755	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001579900	SCV001971996	benign	not specified		no assertion criteria provided	clinical testing