ClinVar Miner

Submissions for variant NM_054027.6(ANKH):c.*3928_*3929del

dbSNP: rs527918862
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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 RCV000331602 SCV000453552 benign Chondrocalcinosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000386125 SCV000453553 benign Craniometadiaphyseal dysplasia wormian bone type 2016-06-14 criteria provided, single submitter clinical testing

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