ClinVar Miner

Submissions for variant NM_022168.4(IFIH1):c.2361C>T (p.Ile787=)

gnomAD frequency: 0.00007  dbSNP: rs35677292
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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 RCV000652106 SCV000773974 likely benign Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 2024-01-18 criteria provided, single submitter clinical testing

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