ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.4611G>A (p.Thr1537=) (rs138475920)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg RCV000408550 SCV000281899 uncertain significance Stargardt disease 1 2016-01-01 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000313966 SCV000345555 uncertain significance not provided 2016-09-01 criteria provided, single submitter clinical testing
Invitae RCV000313966 SCV001074570 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001074482 SCV001240068 uncertain significance Retinal dystrophy 2017-09-15 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001101754 SCV001258391 uncertain significance 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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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