ClinVar Miner

Submissions for variant NM_022168.4(IFIH1):c.2196T>C (p.Tyr732=)

gnomAD frequency: 0.00034  dbSNP: rs147175706
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000533877 SCV000655025 likely benign Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 2024-01-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004711183 SCV005256384 likely benign not provided criteria provided, single submitter not provided

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