ClinVar Miner

Submissions for variant NM_001377265.1(MAPT):c.220+2480G>A

gnomAD frequency: 0.00006  dbSNP: rs368318765
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002088779 SCV002382605 likely benign Frontotemporal dementia 2024-06-20 criteria provided, single submitter clinical testing

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