ClinVar Miner

Submissions for variant NM_022168.4(IFIH1):c.2299del (p.Thr767fs)

gnomAD frequency: 0.00006  dbSNP: rs759430873
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001236460 SCV001409184 likely benign Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 2024-01-29 criteria provided, single submitter clinical testing
New York Genome Center RCV002227512 SCV002506778 uncertain significance Aicardi-Goutieres syndrome 7 2021-07-02 criteria provided, single submitter clinical testing
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002252341 SCV002523676 uncertain significance See cases 2020-05-08 criteria provided, single submitter clinical testing ACMG classification criteria: BS2
CeGaT Center for Human Genetics Tuebingen RCV003456483 SCV004183778 uncertain significance not provided 2023-11-01 criteria provided, single submitter clinical testing IFIH1: PVS1:Strong, BS2

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