ClinVar Miner

Submissions for variant NM_014336.5(AIPL1):c.401A>T (p.Tyr134Phe) (rs16955851)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000177283 SCV000229127 likely benign not specified 2015-05-05 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000177283 SCV000312138 benign not specified criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000487555 SCV000575082 uncertain significance not provided 2019-08-01 criteria provided, single submitter clinical testing
Invitae RCV001082876 SCV000764117 benign Leber congenital amaurosis 4 2019-12-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000177283 SCV000883375 benign not specified 2018-08-24 criteria provided, single submitter clinical testing
Mendelics RCV000989685 SCV001140220 likely benign Leber congenital amaurosis 1 2019-05-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001082876 SCV001284472 uncertain significance Leber congenital amaurosis 4 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. 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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