ClinVar Miner

Submissions for variant NM_000021.4(PSEN1):c.1071A>G (p.Ser357=)

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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 RCV002637618 SCV003517920 likely benign Alzheimer disease 3; Frontotemporal dementia; Pick disease; Acne inversa, familial, 3 2019-05-14 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003906559 SCV004722332 likely benign PSEN1-related disorder 2019-07-17 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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