ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.2546G>A (p.Cys849Tyr) (rs111033481)

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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 RCV000041814 SCV000065510 benign not specified 2011-07-07 criteria provided, single submitter clinical testing Cys849Tyr in exon 13 of USH2A: This variant is not expected to have clinical sig nificance because it has been identified in over 1% of controls (rs111033481).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000041814 SCV000343168 benign not specified 2016-07-12 criteria provided, single submitter clinical testing
Invitae RCV000946559 SCV001092703 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Mendelics RCV000986544 SCV001135562 benign Usher syndrome, type 2A 2019-05-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001098935 SCV001255337 uncertain significance 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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Clinical Services Laboratory,Illumina RCV000986544 SCV001257282 likely 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

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