ClinVar Miner

Submissions for variant NM_019112.4(ABCA7):c.5570+5G>C

gnomAD frequency: 0.00203  dbSNP: rs200538373
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000658811 SCV000780606 uncertain significance not provided 2017-11-01 criteria provided, single submitter clinical testing
Mendelics RCV002249387 SCV002517493 uncertain significance Alzheimer disease 9 2023-04-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003928151 SCV004739360 benign ABCA7-related disorder 2019-09-10 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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