ClinVar Miner

Submissions for variant NM_032193.3(RNASEH2C):c.178dup (p.Glu60fs) (rs772940104)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Human Genetics,Children's Hospital of Philadelphia RCV000185574 SCV000238474 likely pathogenic Aicardi Goutieres syndrome 3 2015-05-26 no assertion criteria provided research The RNASEH2C variant (c.178dup; p.Glu60Glyfs*46) is considered likely pathogenic because it results in the premature truncation of the transcript, which may be affected by nonsense mediated decay. Another frameshift variant has been reported downstream of this position.
Division of Human Genetics,Children's Hospital of Philadelphia RCV000185574 SCV000536915 likely pathogenic Aicardi Goutieres syndrome 3 2015-05-26 no assertion criteria provided research

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