ClinVar Miner

Submissions for variant NM_001377265.1(MAPT):c.2079G>A (p.Pro693=)

gnomAD frequency: 0.00010  dbSNP: rs63751395
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000396762 SCV000403489 likely benign MAPT-Related Spectrum Disorders 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae RCV002514503 SCV003251838 likely benign Frontotemporal dementia 2022-10-24 criteria provided, single submitter clinical testing
VIB Department of Molecular Genetics, University of Antwerp RCV000084528 SCV000116664 not provided not provided no assertion provided not provided

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