ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.3364T>G (p.Ser1122Ala) (rs148135241)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000041826 SCV000065522 benign not specified 2013-03-09 criteria provided, single submitter clinical testing Ser1122Ala in Exon 17 of USH2A: This variant is not expected to have clinical si gnificance because it has been identified in 6.0% (24/394) of Asian chromosomes from the 1000 Genomes Project (dbSNP rs148135241).
GeneDx RCV000041826 SCV000169736 benign not specified 2013-02-12 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756884 SCV000884852 benign not provided 2017-09-29 criteria provided, single submitter clinical testing
Invitae RCV000756884 SCV001049515 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001100646 SCV001257175 benign Retinitis pigmentosa 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Clinical Services Laboratory,Illumina RCV001100647 SCV001257176 benign Usher syndrome, type 2A 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.

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