ClinVar Miner

Submissions for variant NM_000021.4(PSEN1):c.366C>T (p.Thr122=)

gnomAD frequency: 0.00008  dbSNP: rs201644344
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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 RCV000873640 SCV001015671 likely benign Alzheimer disease 3; Frontotemporal dementia; Pick disease; Acne inversa, familial, 3 2024-01-18 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004702492 SCV005203773 likely benign not specified 2024-07-03 criteria provided, single submitter clinical testing

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