ClinVar Miner

Submissions for variant NC_000014.9:g.73136191C>G

gnomAD frequency: 0.00339  dbSNP: rs34086577
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001516352 SCV001724622 benign Alzheimer disease 3; Frontotemporal dementia; Pick disease; Acne inversa, familial, 3 2024-01-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003222026 SCV003917330 likely benign not provided 2024-06-01 criteria provided, single submitter clinical testing PSEN1: BS2
PreventionGenetics, part of Exact Sciences RCV003925647 SCV004739368 likely benign PSEN1-related disorder 2019-03-12 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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