ClinVar Miner

Submissions for variant NM_001377265.1(MAPT):c.*2289G>A

gnomAD frequency: 0.14437  dbSNP: rs16940806
Minimum review status: Collection method:
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000259950 SCV000403538 benign MAPT-Related Spectrum Disorders 2016-06-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004709675 SCV005247036 benign not provided criteria provided, single submitter not provided

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