ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.1610G>A (p.Arg537His)

gnomAD frequency: 0.00176  dbSNP: rs61752395
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000369062 SCV000359480 likely benign Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000276834 SCV000359481 likely benign Stargardt Disease, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000315522 SCV000359482 likely benign Retinitis Pigmentosa, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000363019 SCV000359483 likely benign Cone-Rod Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000085407 SCV000729315 likely benign not provided 2019-04-15 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 14517951, 29068140, 28838317, 29925512, 32783370)
Invitae RCV000085407 SCV001054693 benign not provided 2024-01-21 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001100054 SCV001256555 likely benign ABCA4-related disorder 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 RCV000085407 SCV000117544 not provided not provided no assertion provided not provided
Blueprint Genetics RCV001074421 SCV001240004 likely pathogenic Retinal dystrophy 2019-08-16 flagged submission clinical testing

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