ClinVar Miner

Submissions for variant NM_022168.4(IFIH1):c.1930G>A (p.Asp644Asn)

dbSNP: rs1553459020
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000585413 SCV000693002 uncertain significance not provided 2017-11-01 criteria provided, single submitter clinical testing
Invitae RCV002061965 SCV002433385 likely benign Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 2022-07-25 criteria provided, single submitter clinical testing

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