ClinVar Miner

Submissions for variant NM_017565.4(FAM20A):c.1293C>T (p.Asn431=)

gnomAD frequency: 0.00002  dbSNP: rs377240666
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001486641 SCV001691105 likely benign not provided 2020-10-10 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005023173 SCV005651017 uncertain significance Amelogenesis imperfecta type 1G 2023-12-22 criteria provided, single submitter clinical testing

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