ClinVar Miner

Submissions for variant NM_022168.4(IFIH1):c.716dup (p.Met240fs) (rs1558875029)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000714824 SCV000845560 likely pathogenic Aicardi-Goutieres syndrome 7 2018-08-07 criteria provided, single submitter clinical testing
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000714825 SCV000845561 likely pathogenic Singleton-Merten syndrome 1 2018-08-07 criteria provided, single submitter clinical testing

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