ClinVar Miner

Submissions for variant NM_001377265.1(MAPT):c.1333C>T (p.Arg445Trp)

gnomAD frequency: 0.14348  dbSNP: rs17651549
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000241580 SCV000306664 benign not specified criteria provided, single submitter clinical testing
Mendelics RCV000989933 SCV001140672 benign Frontotemporal dementia 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000989933 SCV001717846 benign Frontotemporal dementia 2025-01-14 criteria provided, single submitter clinical testing
GeneDx RCV001618407 SCV001846817 benign not provided 2018-08-11 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23222517)
Breakthrough Genomics, Breakthrough Genomics RCV001618407 SCV005247000 benign not provided criteria provided, single submitter not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000241580 SCV001808399 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000241580 SCV001925338 benign not specified no assertion criteria provided clinical testing

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