Submissions for variant NM_000047.3(ARSL):c.157A>G (p.Ile53Val)

gnomAD frequency: 0.02854  dbSNP: rs61733256

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000145027	SCV000192064	benign	not specified	2013-02-08	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000145027	SCV000301624	benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000145027	SCV000516926	benign	not specified	2016-11-21	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	RCV002228516	SCV000639843	benign	Chondrodysplasia punctata, brachytelephalangic, autosomal	2024-01-31	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000526439	SCV001156838	benign	X-linked chondrodysplasia punctata 1	2023-11-29	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000526439	SCV001775371	benign	X-linked chondrodysplasia punctata 1	2021-07-14	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002277286	SCV002566793	benign	Connective tissue disorder	2020-03-01	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV004713369	SCV005278970	benign	not provided		criteria provided, single submitter	not provided