ClinVar Miner

Submissions for variant NM_001377265.1(MAPT):c.2341G>A (p.Gly781Arg) (rs63750512)

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Total submissions: 2
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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
OMIM RCV000015324 SCV000035583 pathogenic Pick disease 2000-12-01 no assertion criteria provided literature only

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