ClinVar Miner

Submissions for variant NM_017565.4(FAM20A):c.513T>C (p.His171=)

gnomAD frequency: 0.00030  dbSNP: rs181817943
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000905179 SCV001049749 likely benign not provided 2024-10-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495476 SCV002795284 likely benign Amelogenesis imperfecta type 1G 2022-03-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000905179 SCV005042027 likely benign not provided 2024-04-01 criteria provided, single submitter clinical testing FAM20A: BP4, BP7

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