ClinVar Miner

Submissions for variant NM_022168.4(IFIH1):c.2893G>A (p.Gly965Ser)

gnomAD frequency: 0.00006  dbSNP: rs202009944
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000703155 SCV000832041 likely benign Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 2024-01-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000997248 SCV001152468 uncertain significance not provided 2023-10-01 criteria provided, single submitter clinical testing
GenomeConnect - Invitae Patient Insights Network RCV000703155 SCV001749835 not provided Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 12-03-2019 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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