ClinVar Miner

Submissions for variant NM_001377265.1(MAPT):c.1733-12C>T

gnomAD frequency: 0.00005  dbSNP: rs373115116
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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 RCV002198404 SCV002487159 likely benign Frontotemporal dementia 2024-10-16 criteria provided, single submitter clinical testing
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV002198404 SCV004805694 likely benign Frontotemporal dementia 2024-03-29 criteria provided, single submitter clinical testing

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