ClinVar Miner

Submissions for variant NM_014336.5(AIPL1):c.268G>C (p.Asp90His)

gnomAD frequency: 0.19586  dbSNP: rs12449580
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000242515 SCV000312134 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000385931 SCV000405630 benign Retinitis pigmentosa 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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Laboratory Services, Illumina RCV000294049 SCV000405631 benign 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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Laboratory Services, Illumina RCV000350965 SCV000405632 likely benign Retinitis Pigmentosa, Dominant 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000086217 SCV000883374 benign not provided 2023-11-29 criteria provided, single submitter clinical testing
Mendelics RCV000989686 SCV001140221 benign Leber congenital amaurosis 1 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000294049 SCV001731737 benign Leber congenital amaurosis 4 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000086217 SCV001887066 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002483169 SCV002799170 benign Leber congenital amaurosis 4; Retinitis pigmentosa 2021-09-20 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000086217 SCV005218053 likely benign not provided criteria provided, single submitter not provided
Retina International RCV000086217 SCV000118362 not provided not provided no assertion provided not provided

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