ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.6498C>T (p.Ile2166=)

dbSNP: rs61751379
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000443878 SCV000511913 likely benign not specified 2016-10-03 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.
Invitae RCV000971200 SCV001118826 likely benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001075192 SCV001240805 uncertain significance Retinal dystrophy 2018-11-07 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001099676 SCV001256148 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.
CeGaT Center for Human Genetics Tuebingen RCV000971200 SCV004124071 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing ABCA4: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003970103 SCV004793634 likely benign ABCA4-related condition 2019-07-24 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Clinical Genetics, Academic Medical Center RCV000443878 SCV001924817 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000971200 SCV001967316 likely benign not provided no assertion criteria provided clinical testing

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