ClinVar Miner

Submissions for variant NM_001377265.1(MAPT):c.2341G>A (p.Gly781Arg)

gnomAD frequency: 0.00001  dbSNP: rs63750512
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000517183 SCV000614040 likely pathogenic not provided 2017-05-16 criteria provided, single submitter clinical testing
Invitae RCV001851871 SCV002116561 pathogenic Frontotemporal dementia 2021-08-31 criteria provided, single submitter clinical testing
OMIM RCV000015324 SCV000035583 pathogenic Pick disease 2000-12-01 no assertion criteria provided literature only

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