ClinVar Miner

Submissions for variant NM_000484.4(APP):c.510G>A (p.Met170Ile)

gnomAD frequency: 0.00010  dbSNP: rs372642708
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002958001 SCV003273042 likely benign Alzheimer disease 2022-12-02 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV004790285 SCV005410126 uncertain significance not provided 2024-02-21 criteria provided, single submitter clinical testing PP3

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