ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.*626T>C

gnomAD frequency: 0.00022  dbSNP: rs533537317
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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 RCV000313202 SCV000403596 likely benign Syndromic intellectual disability 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000303916 SCV000483639 likely benign MAPT-Related Spectrum Disorders 2016-06-14 criteria provided, single submitter clinical testing

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