Submissions for variant NM_000996.4(RPL35A):c.21C>T (p.Ser7=)

gnomAD frequency: 0.00006  dbSNP: rs145660527

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000865281	SCV000442679	likely benign	Diamond-Blackfan anemia 5	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.
Genetic Services Laboratory, University of Chicago	RCV000499744	SCV000596791	likely benign	not specified	2017-02-07	criteria provided, single submitter	clinical testing
Invitae	RCV000865281	SCV001006219	benign	Diamond-Blackfan anemia 5	2023-12-18	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002429308	SCV002729512	likely benign	Diamond-Blackfan anemia	2019-10-23	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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.
Fulgent Genetics, Fulgent Genetics	RCV000865281	SCV002796238	likely benign	Diamond-Blackfan anemia 5	2021-12-23	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003957782	SCV004775644	likely benign	RPL35A-related condition	2020-05-05	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).