ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.1240-8G>C

gnomAD frequency: 0.00038  dbSNP: rs185225547
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000354740 SCV000359523 uncertain significance Retinitis Pigmentosa, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000262287 SCV000359524 uncertain significance Stargardt Disease, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000319666 SCV000359525 uncertain significance Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000367371 SCV000359526 uncertain significance Cone-Rod Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000971845 SCV001119518 likely benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001096638 SCV001252863 uncertain significance ABCA4-Related Disorders 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.
GeneDx RCV000971845 SCV001891308 likely benign not provided 2019-12-23 criteria provided, single submitter clinical testing

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