ClinVar Miner

Submissions for variant NM_001377265.1(MAPT):c.*1047C>T

gnomAD frequency: 0.02477  dbSNP: rs113815715
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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 RCV000395866 SCV000403509 benign MAPT-Related Spectrum Disorders 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000399407 SCV000483592 likely benign Syndromic intellectual disability 2016-06-14 criteria provided, single submitter clinical testing

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