ClinVar Miner

Submissions for variant NM_001377265.1(MAPT):c.969A>C (p.Thr323=)

gnomAD frequency: 0.00002  dbSNP: rs781607136
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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 RCV001481300 SCV001685642 likely benign Frontotemporal dementia 2018-09-27 criteria provided, single submitter clinical testing

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