ClinVar Miner

Submissions for variant NM_005802.5(TOPORS):c.2344A>G (p.Thr782Ala)

gnomAD frequency: 0.00009  dbSNP: rs746320974
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000177244 SCV000229087 uncertain significance not provided 2014-12-17 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001168731 SCV001331341 benign Retinitis pigmentosa 2017-04-28 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 RCV000177244 SCV002349629 likely benign not provided 2025-01-13 criteria provided, single submitter clinical testing

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