ClinVar Miner

Submissions for variant NM_022168.4(IFIH1):c.1996C>T (p.Pro666Ser)

dbSNP: rs376074455
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000691811 SCV000819603 likely benign Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 2023-11-17 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003432736 SCV004147079 likely benign not provided 2022-04-01 criteria provided, single submitter clinical testing IFIH1: BP4

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