ClinVar Miner

Submissions for variant NM_054027.6(ANKH):c.-291CCG[8]

dbSNP: rs531421951
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000294856 SCV000454619 likely benign Craniometadiaphyseal dysplasia wormian bone type 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000352183 SCV000454620 likely benign Chondrocalcinosis 2016-06-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003437121 SCV004150070 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing ANKH: BS2

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