ClinVar Miner

Submissions for variant NM_001377265.1(MAPT):c.*3570T>C

gnomAD frequency: 0.00098  dbSNP: rs567899904
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000276329 SCV000403564 likely benign MAPT-Related Spectrum Disorders 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000267026 SCV000483624 likely benign Syndromic intellectual disability 2016-06-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004703724 SCV005212942 likely benign not provided criteria provided, single submitter not provided

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