ClinVar Miner

Submissions for variant NM_001377265.1(MAPT):c.1080C>T (p.Asp360=)

gnomAD frequency: 0.11265  dbSNP: rs63750222
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000254558 SCV000306678 benign not specified criteria provided, single submitter clinical testing
Invitae RCV001514000 SCV001721728 benign Frontotemporal dementia 2021-08-05 criteria provided, single submitter clinical testing
GeneDx RCV000084504 SCV001829705 benign not provided 2018-08-15 criteria provided, single submitter clinical testing
VIB Department of Molecular Genetics, University of Antwerp RCV000084504 SCV000116640 not provided not provided no assertion provided not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000254558 SCV001808710 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000254558 SCV001925911 benign not specified no assertion criteria provided clinical testing

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