ClinVar Miner

Submissions for variant NM_001377265.1(MAPT):c.1156G>A (p.Val386Met)

dbSNP: rs747178896
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000970515 SCV001118094 likely benign not provided 2017-06-27 criteria provided, single submitter clinical testing
GeneDx RCV000970515 SCV001997506 uncertain significance not provided 2020-01-03 criteria provided, single submitter clinical testing In silico analysis, which includes splice predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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