ClinVar Miner

Submissions for variant NM_000021.4(PSEN1):c.-136+213G>A

dbSNP: rs199959804
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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 RCV001495274 SCV001699949 likely benign Alzheimer disease 3; Frontotemporal dementia; Pick disease; Acne inversa, familial, 3 2020-12-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003399258 SCV004136860 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing PSEN1: BS1

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