Submissions for variant NM_020320.5(RARS2):c.63A>G (p.Pro21=)

gnomAD frequency: 0.01309  dbSNP: rs7748563

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000118125	SCV000152469	benign	not specified	2013-07-22	criteria provided, single submitter	clinical testing
GeneDx	RCV000118125	SCV000171297	benign	not specified	2013-06-03	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.
Illumina Laboratory Services, Illumina	RCV000295839	SCV000465754	likely benign	Pontocerebellar hypoplasia type 6	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae	RCV000676837	SCV001012568	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000295839	SCV002797987	likely benign	Pontocerebellar hypoplasia type 6	2021-10-08	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000676837	SCV000802647	benign	not provided	2017-08-04	no assertion criteria provided	clinical testing
Natera, Inc.	RCV000295839	SCV001459658	benign	Pontocerebellar hypoplasia type 6	2020-09-16	no assertion criteria provided	clinical testing