ClinVar Miner

Submissions for variant NM_017565.4(FAM20A):c.43C>T (p.Leu15=)

gnomAD frequency: 0.00020  dbSNP: rs372862593
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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 RCV001472111 SCV001676239 likely benign not provided 2024-12-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002506545 SCV002813550 likely benign Amelogenesis imperfecta type 1G 2021-11-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003956039 SCV004776113 likely benign FAM20A-related disorder 2020-01-30 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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