ClinVar Miner

Submissions for variant NM_014336.5(AIPL1):c.341C>T (p.Thr114Ile)

gnomAD frequency: 0.01781  dbSNP: rs8069375
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000393732 SCV000332799 benign not specified 2015-07-28 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000300344 SCV000405614 likely benign Retinitis Pigmentosa, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001081325 SCV000405615 likely benign 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. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina RCV000395155 SCV000405616 likely benign Retinitis pigmentosa 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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae RCV001081325 SCV000764119 benign Leber congenital amaurosis 4 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000086224 SCV001872098 benign not provided 2019-10-13 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 10873396, 33067476, 27884173, 20981092)
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000393732 SCV002103865 likely benign not specified 2022-02-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498465 SCV002810089 benign Leber congenital amaurosis 4; Retinitis pigmentosa 2022-05-05 criteria provided, single submitter clinical testing
Retina International RCV000086224 SCV000118369 not provided not provided no assertion provided not provided

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