ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.4256T>C (p.Met1419Thr)

gnomAD frequency: 0.00002  dbSNP: rs142673376
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000345844 SCV000359331 likely benign Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000408394 SCV000359332 likely benign Stargardt Disease, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000306201 SCV000359333 likely benign Retinitis Pigmentosa, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000358611 SCV000359334 likely benign Cone-Rod Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000603618 SCV000730480 likely benign not specified 2017-05-22 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Blueprint Genetics RCV001074568 SCV001240159 uncertain significance Retinal dystrophy 2018-12-30 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001098066 SCV001254408 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.
Invitae RCV001515591 SCV001723695 benign not provided 2024-01-31 criteria provided, single submitter clinical testing

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