ClinVar Miner

Submissions for variant NM_001377265.1(MAPT):c.1417C>T (p.Arg473Cys)

gnomAD frequency: 0.00001  dbSNP: rs986393575
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000942546 SCV001088474 likely benign not provided 2018-08-17 criteria provided, single submitter clinical testing
Invitae RCV001503794 SCV001708652 likely benign Frontotemporal dementia 2018-08-17 criteria provided, single submitter clinical testing

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