ClinVar Miner

Submissions for variant NM_022168.4(IFIH1):c.2807+20T>C

gnomAD frequency: 0.00010  dbSNP: rs370508451
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002119002 SCV002446948 likely benign Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 2024-11-21 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004711858 SCV005256379 likely benign not provided criteria provided, single submitter not provided

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