ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.4371G>A (p.Ser1457=)

gnomAD frequency: 0.01440  dbSNP: rs56013136
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000041841 SCV000065537 benign not specified 2009-06-24 criteria provided, single submitter clinical testing
GeneDx RCV000041841 SCV000169739 benign not specified 2011-07-13 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001514244 SCV001158932 benign not provided 2023-11-29 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001098722 SCV001255108 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 Laboratory Services, Illumina RCV001098723 SCV001255109 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV001514244 SCV001722044 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003450843 SCV004182242 benign Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001098723 SCV004182243 benign Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001514244 SCV005280602 benign not provided criteria provided, single submitter not provided

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