ClinVar Miner

Submissions for variant NM_054027.6(ANKH):c.1165G>A (p.Gly389Arg) (rs28939080)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000005502 SCV000025684 pathogenic Craniometaphyseal dysplasia, autosomal dominant 2009-06-01 no assertion criteria provided literature only
OMIM RCV000032998 SCV000056777 pathogenic Familial calcium pyrophosphate deposition 2009-06-01 no assertion criteria provided literature only

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