ClinVar Miner

Submissions for variant NM_017565.4(FAM20A):c.813-2A>G

gnomAD frequency: 0.00003  dbSNP: rs587776912
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000029151 SCV003836400 pathogenic Amelogenesis imperfecta type 1G 2022-03-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000029151 SCV005651041 pathogenic Amelogenesis imperfecta type 1G 2024-05-10 criteria provided, single submitter clinical testing
OMIM RCV000029151 SCV000050601 pathogenic Amelogenesis imperfecta type 1G 2012-01-01 no assertion criteria provided literature only

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