ClinVar Miner

Submissions for variant NM_001377265.1(MAPT):c.777C>T (p.Ala259=)

gnomAD frequency: 0.00027  dbSNP: rs370558032
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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 RCV000952368 SCV001098866 likely benign not provided 2018-06-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004743222 SCV005345414 likely benign MAPT-related disorder 2024-06-27 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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