ClinVar Miner

Submissions for variant NM_054027.6(ANKH):c.830C>T (p.Ala277Val)

dbSNP: rs1738522430
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Service de Génétique Moléculaire, Hôpital Robert Debré RCV001270428 SCV001450718 uncertain significance Chondrocalcinosis 2; Craniometaphyseal dysplasia, autosomal dominant 2020-07-10 no assertion criteria provided clinical testing

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