ClinVar Miner

Submissions for variant NM_054027.6(ANKH):c.-291CCG[9]

dbSNP: rs531421951
Minimum review status: Collection method:
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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 RCV000407554 SCV000454621 uncertain significance Chondrocalcinosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000293837 SCV000454622 uncertain significance Craniometadiaphyseal dysplasia wormian bone type 2016-06-14 criteria provided, single submitter clinical testing

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