ClinVar Miner

Submissions for variant NM_001377265.1(MAPT):c.830C>T (p.Pro277Leu)

gnomAD frequency: 0.14668  dbSNP: rs63750417
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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 RCV000254223 SCV000306675 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001510735 SCV001717843 benign Frontotemporal dementia 2025-01-14 criteria provided, single submitter clinical testing
GeneDx RCV000084582 SCV001887671 benign not provided 2018-08-11 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 30679340, 23222517)
Breakthrough Genomics, Breakthrough Genomics RCV000084582 SCV005246993 benign not provided criteria provided, single submitter not provided
VIB Department of Molecular Genetics, University of Antwerp RCV000084582 SCV000116718 not provided not provided no assertion provided not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000254223 SCV001808311 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000254223 SCV001918599 benign not specified no assertion criteria provided clinical testing

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