ClinVar Miner

Submissions for variant NM_054027.6(ANKH):c.*1948_*1949del

gnomAD frequency: 0.00002  dbSNP: rs527743958
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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 RCV000392917 SCV000453622 likely benign Chondrocalcinosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000284867 SCV000453623 likely benign Craniometadiaphyseal dysplasia wormian bone type 2016-06-14 criteria provided, single submitter clinical testing

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