Submissions for variant NM_000047.3(ARSL):c.548G>A (p.Arg183His)

gnomAD frequency: 0.01378  dbSNP: rs34412194

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000145032	SCV000192070	benign	not specified	2013-02-08	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000224708	SCV000281213	benign	not provided	2015-06-04	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001000012	SCV000602544	benign	X-linked chondrodysplasia punctata 1	2023-11-28	criteria provided, single submitter	clinical testing
GeneDx	RCV000145032	SCV000729613	benign	not specified	2017-11-13	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV002228519	SCV001012427	benign	Chondrodysplasia punctata, brachytelephalangic, autosomal	2025-02-02	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002277287	SCV002566372	likely benign	Connective tissue disorder	2019-01-01	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000224708	SCV005278963	benign	not provided		criteria provided, single submitter	not provided