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: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000245445 SCV000314021 benign not specified criteria provided, single submitter clinical testing
Invitae RCV001521987 SCV001731434 benign Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 2021-12-19 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

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