ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.1029T>C (p.Asn343=)

gnomAD frequency: 0.00120  dbSNP: rs145483148
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000152711 SCV000202097 uncertain significance not provided 2017-03-22 criteria provided, single submitter clinical testing
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV000408602 SCV000281814 uncertain significance Severe early-childhood-onset retinal dystrophy 2016-01-01 criteria provided, single submitter clinical testing
Invitae RCV000152711 SCV001025305 likely benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001073800 SCV001239362 uncertain significance Retinal dystrophy 2018-03-07 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001096643 SCV001252868 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 RCV000152711 SCV002062817 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing ABCA4: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003952741 SCV004775467 likely benign ABCA4-related condition 2020-04-03 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 RCV001699130 SCV001920275 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000152711 SCV001964255 likely benign not provided no assertion criteria provided clinical testing

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