ClinVar Miner

Submissions for variant NM_000484.4(APP):c.1722T>C (p.Asp574=)

gnomAD frequency: 0.00005  dbSNP: rs201794320
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001441228 SCV001644152 likely benign Alzheimer disease 2024-06-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004746387 SCV005352089 likely benign APP-related disorder 2024-08-05 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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