ClinVar Miner

Submissions for variant NM_001377265.1(MAPT):c.1732+2342T>C

gnomAD frequency: 0.14662  dbSNP: rs62063845
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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 RCV000251813 SCV000306669 benign not specified criteria provided, single submitter clinical testing
Invitae RCV001510739 SCV001717849 benign Frontotemporal dementia 2024-01-15 criteria provided, single submitter clinical testing
GeneDx RCV000084511 SCV001885771 benign not provided 2018-08-11 criteria provided, single submitter clinical testing
VIB Department of Molecular Genetics, University of Antwerp RCV000084511 SCV000116647 not provided not provided no assertion provided not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000251813 SCV001808454 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000251813 SCV001918904 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000251813 SCV001932328 benign not specified no assertion criteria provided clinical testing

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