ClinVar Miner

Submissions for variant NM_017565.4(FAM20A):c.826C>T (p.Arg276Ter)

gnomAD frequency: 0.00001  dbSNP: rs387907215
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV000029154 SCV002791488 pathogenic Amelogenesis imperfecta type 1G 2024-01-03 criteria provided, single submitter clinical testing
OMIM RCV000029154 SCV000050604 pathogenic Amelogenesis imperfecta type 1G 2012-01-01 no assertion criteria provided literature only

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