ClinVar Miner

Submissions for variant NM_014336.5(AIPL1):c.267C>T (p.Cys89=)

gnomAD frequency: 0.00366  dbSNP: rs62653020
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000259077 SCV000113544 benign not specified 2016-09-19 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001080955 SCV000405633 uncertain significance Leber congenital amaurosis 4 2018-01-12 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.
Illumina Laboratory Services, Illumina RCV000306547 SCV000405634 uncertain significance Retinitis Pigmentosa, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000345097 SCV000405635 uncertain significance Retinitis Pigmentosa, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV001080955 SCV000642111 benign Leber congenital amaurosis 4 2024-01-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000081613 SCV001159145 benign not provided 2023-08-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000081613 SCV004141713 likely benign not provided 2023-07-01 criteria provided, single submitter clinical testing AIPL1: BP4, BP7, BS2
Retina International RCV000081613 SCV000118361 not provided not provided no assertion provided not provided
Clinical Genetics, Academic Medical Center RCV000259077 SCV001924928 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000081613 SCV001971699 likely benign not provided no assertion criteria provided clinical testing

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