ClinVar Miner

Submissions for variant NM_022168.4(IFIH1):c.2811A>G (p.Glu937=)

gnomAD frequency: 0.00005  dbSNP: rs759715693
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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 RCV002201584 SCV002493675 likely benign Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 2024-01-06 criteria provided, single submitter clinical testing

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