ClinVar Miner

Submissions for variant NM_054027.6(ANKH):c.*416_*419dup

dbSNP: rs142033023
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000403312 SCV000453688 likely benign Craniometadiaphyseal dysplasia wormian bone type 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000307966 SCV000453689 likely benign Chondrocalcinosis 2016-06-14 criteria provided, single submitter clinical testing

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