ClinVar Miner

Submissions for variant NM_022168.4(IFIH1):c.1909A>G (p.Lys637Glu)

gnomAD frequency: 0.00001  dbSNP: rs746002371
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001881077 SCV002143061 likely benign Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 2023-10-23 criteria provided, single submitter clinical testing

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