ClinVar Miner

Submissions for variant NM_022168.4(IFIH1):c.1765G>A (p.Ala589Thr)

gnomAD frequency: 0.00017  dbSNP: rs150760072
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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 RCV001298097 SCV001487140 likely benign Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 2023-11-27 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004692429 SCV005187971 uncertain significance not provided criteria provided, single submitter not provided

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