ClinVar Miner

Submissions for variant NM_170784.3(MKKS):c.-417-13dup

dbSNP: rs528193828
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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 RCV000306351 SCV000432793 uncertain significance Bardet-Biedl syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000344765 SCV000432794 uncertain significance McKusick-Kaufman syndrome 2016-06-14 criteria provided, single submitter clinical testing

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