ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.1927G>A (p.Val643Met) (rs61749417)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000174470 SCV000225778 benign not specified 2015-05-13 criteria provided, single submitter clinical testing
GeneDx RCV000085445 SCV000321341 benign not provided 2020-04-30 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 22995991, 24265693, 25066811, 28044389, 25082885, 25097241, 25910913, 11527935, 22328824, 29925512, 32619608)
Illumina Clinical Services Laboratory,Illumina RCV000353201 SCV000359460 likely benign Stargardt Disease, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000260757 SCV000359461 likely benign Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000318324 SCV000359462 likely benign Cone-Rod Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000356519 SCV000359463 likely benign Retinitis Pigmentosa, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000085445 SCV001038385 benign not provided 2020-12-01 criteria provided, single submitter clinical testing
Mendelics RCV000986369 SCV001135357 benign Stargardt disease 1 2019-05-28 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001075850 SCV001241489 uncertain significance Retinal dystrophy 2019-08-02 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001098279 SCV001254633 likely benign ABCA4-Related Disorders 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.
Retina International RCV000085445 SCV000117582 not provided not provided no assertion provided not provided

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