ClinVar Miner

Submissions for variant NM_001195248.2(APTX):c.742T>A (p.Leu248Met) (rs141195622)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000710078 SCV000333620 uncertain significance not provided 2015-08-13 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000710078 SCV000612396 likely benign not provided 2019-02-28 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000710078 SCV001155625 uncertain significance not provided 2018-09-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001165622 SCV001327833 uncertain significance Ataxia-oculomotor apraxia type 1 2017-05-16 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. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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