ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.981C>T (p.Pro327=) (rs61753057)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg RCV000408507 SCV000281812 uncertain significance Stargardt disease 1 2016-01-01 criteria provided, single submitter clinical testing
Invitae RCV000085877 SCV001028336 likely benign not provided 2020-11-13 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001001385 SCV001158587 likely benign not specified 2018-09-13 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001073716 SCV001239275 uncertain significance Retinal dystrophy 2017-07-23 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001098364 SCV001254724 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.
GeneDx RCV000085877 SCV001916007 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Retina International RCV000085877 SCV000118020 not provided not provided no assertion provided not provided
Clinical Genetics,Academic Medical Center RCV000085877 SCV001921543 likely benign not provided no assertion criteria provided clinical testing

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