ClinVar Miner

Submissions for variant NM_022168.4(IFIH1):c.2305-2A>G

gnomAD frequency: 0.00003  dbSNP: rs199696786
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001346458 SCV001540665 likely benign Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 2023-12-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002486411 SCV002784667 uncertain significance Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7; Immunodeficiency 95 2022-02-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002547061 SCV003741607 likely benign Inborn genetic diseases 2022-02-08 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen RCV003438747 SCV004147078 uncertain significance not provided 2022-06-01 criteria provided, single submitter clinical testing

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