ClinVar Miner

Submissions for variant NM_001142.2(AMELX):c.129G>C (p.Gln43His)

dbSNP: rs431825176
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Medical Biology Lab, Gaziantep University RCV000083240 SCV000115314 not provided X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 no assertion provided not provided

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