ClinVar Miner

Submissions for variant NM_022168.4(IFIH1):c.11G>A (p.Gly4Glu)

gnomAD frequency: 0.00001  dbSNP: rs1558879403
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000729683 SCV000857363 uncertain significance not provided 2017-10-05 criteria provided, single submitter clinical testing
Invitae RCV002535127 SCV003022435 likely benign Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 2022-11-22 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000729683 SCV005187973 uncertain significance not provided criteria provided, single submitter not provided

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