ClinVar Miner

Submissions for variant NM_000484.4(APP):c.819CAC[6] (p.Thr280del)

dbSNP: rs527890624
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV003482831 SCV004229961 uncertain significance not provided 2023-03-13 criteria provided, single submitter clinical testing Available data are insufficient to determine the clinical significance of the variant at this time. The frequency of this variant in the general population is uninformative in assessment of its pathogenicity (http://gnomad.broadinstitute.org).
PreventionGenetics, part of Exact Sciences RCV004747301 SCV005352088 likely benign APP-related disorder 2024-07-02 no assertion criteria provided 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).

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