ClinVar Miner

Submissions for variant NM_001377265.1(MAPT):c.912C>G (p.Pro304=)

gnomAD frequency: 0.00112  dbSNP: rs142327009
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000873779 SCV001015838 benign Frontotemporal dementia 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV001766782 SCV001988780 benign not provided 2021-07-16 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001766782 SCV003917937 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing

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