ClinVar Miner

Submissions for variant NM_022168.4(IFIH1):c.2836G>A (p.Ala946Thr)

gnomAD frequency: 0.44895  dbSNP: rs1990760
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000245445 SCV000314021 benign not specified criteria provided, single submitter clinical testing
Invitae RCV001521987 SCV001731434 benign Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001618467 SCV001845508 benign not provided 2018-11-12 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 31866997, 22561518, 28553952, 28973304, 23441136, 27720759, 28000722, 23734776, 16699517, 24386202, 20644636, 20694011, 20467774, 17535987, 19324880, 21705624, 19539001, 18927125, 19841890, 24117221, 24995871)
Genome-Nilou Lab RCV001701912 SCV001933265 benign Aicardi-Goutieres syndrome 7 2021-08-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001701913 SCV001933266 benign Singleton-Merten syndrome 1 2021-08-10 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV000245445 SCV004102027 benign not specified 2023-11-12 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 59% of patients studied by a panel of primary immunodeficiencies. Number of patients: 57. Only high quality variants are reported.

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