ClinVar Miner

Submissions for variant NM_000429.3(MAT1A):c.875G>A (p.Arg292His)

gnomAD frequency: 0.00001  dbSNP: rs781774786
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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 RCV001055501 SCV001219899 uncertain significance Hepatic methionine adenosyltransferase deficiency 2021-09-02 criteria provided, single submitter clinical testing
Laboratory of Metabolic Disorders, Peking University First Hospital RCV001055501 SCV003802979 uncertain significance Hepatic methionine adenosyltransferase deficiency 2022-08-07 criteria provided, single submitter clinical testing
Juno Genomics, Hangzhou Juno Genomics, Inc RCV001055501 SCV005417929 likely pathogenic Hepatic methionine adenosyltransferase deficiency criteria provided, single submitter clinical testing PM2_Supporting+PP3_Strong+PP4

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