ClinVar Miner

Submissions for variant NM_198488.5(FAM83H):c.1379G>A (p.Trp460Ter)

dbSNP: rs137854444
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV004558233 SCV000020967 pathogenic Amelogenesis imperfecta, type 3A 2009-04-01 no assertion criteria provided literature only
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000000817 SCV001190722 pathogenic Amelogenesis imperfecta, hypocalcification type 2020-02-05 no assertion criteria provided clinical testing

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