ClinVar Miner

Submissions for variant NM_022168.4(IFIH1):c.858C>G (p.Thr286=)

gnomAD frequency: 0.00005  dbSNP: rs567681295
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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 RCV001487055 SCV001691538 likely benign Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 2023-12-18 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004711681 SCV005256391 likely benign not provided criteria provided, single submitter not provided

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