ClinVar Miner

Submissions for variant NM_022168.4(IFIH1):c.2304+3A>G

gnomAD frequency: 0.00027  dbSNP: rs376806735
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000874299 SCV001016455 likely benign Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 2024-01-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501329 SCV002808409 likely benign Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7; Immunodeficiency 95 2021-07-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV002539979 SCV003562204 likely benign Inborn genetic diseases 2021-06-14 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.

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