ClinVar Miner

Submissions for variant NM_012079.6(DGAT1):c.1310A>G (p.Gln437Arg) (rs1588680049)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Sciences and Precision Medicine Center,Medical College of Wisconsin RCV000844891 SCV000965588 likely pathogenic Diarrhea 7 2019-08-13 no assertion criteria provided clinical testing This variant is unique but found in trans with another likely pathogenic variant in a clinically affected individual. In silico modelling implicates functional change.

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