ClinVar Miner

Submissions for variant NM_017565.4(FAM20A):c.1314C>T (p.His438=)

gnomAD frequency: 0.00053  dbSNP: rs78050433
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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 RCV000913493 SCV001058641 benign not provided 2023-04-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502753 SCV002806469 likely benign Amelogenesis imperfecta type 1G 2021-07-20 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003913041 SCV004733218 likely benign FAM20A-related disorder 2024-05-22 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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