ClinVar Miner

Submissions for variant NM_000447.3(PSEN2):c.520A>G (p.Met174Val)

gnomAD frequency: 0.00031  dbSNP: rs61757781
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000861602 SCV001001970 likely benign Alzheimer disease 4 2024-01-13 criteria provided, single submitter clinical testing
Athena Diagnostics RCV001664491 SCV001880011 benign not specified 2021-05-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002487885 SCV002795907 likely benign Alzheimer disease 4; Dilated cardiomyopathy 1V 2021-07-30 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004711311 SCV005263813 likely benign not provided criteria provided, single submitter not provided

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