ClinVar Miner

Submissions for variant NM_014336.5(AIPL1):c.905G>T (p.Arg302Leu) (rs62637015)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000179479 SCV000231734 benign not specified 2014-11-20 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000055942 SCV000405573 uncertain significance Leber congenital amaurosis 4 2018-03-06 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000179479 SCV000883376 benign not specified 2018-07-09 criteria provided, single submitter clinical testing
Invitae RCV000055942 SCV001021769 benign Leber congenital amaurosis 4 2019-12-31 criteria provided, single submitter clinical testing
Mendelics RCV000989684 SCV001140219 likely benign Leber congenital amaurosis 1 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000086236 SCV001151181 likely benign not provided 2019-03-01 criteria provided, single submitter clinical testing
GeneReviews RCV000055942 SCV000086967 pathologic Leber congenital amaurosis 4 2013-05-02 no assertion criteria provided curation Converted during submission to Pathogenic.
Retina International RCV000086236 SCV000118382 not provided not provided no assertion provided not provided

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