ClinVar Miner

Submissions for variant NM_022168.4(IFIH1):c.2730C>A (p.Cys910Ter)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003778665 SCV004608302 likely benign Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 2023-09-15 criteria provided, single submitter clinical testing
Molecular Genetics, Royal Melbourne Hospital RCV003994524 SCV004812613 likely benign Immunodeficiency 95 2023-05-04 criteria provided, single submitter clinical testing South Asian population allele frequency is 0.002599% (rs775467204, 3/30580 alleles, 0 homozygotes in gnomAD v2.1). Based on the classification scheme RMH Modified ACMG/AMP Guidelines v1.4.0, this variant is classified as LIKELY BENIGN. Following criteria are met: BS2
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital RCV003120377 SCV003798465 likely risk allele Susceptibility to severe COVID-19 2022-07-01 no assertion criteria provided research

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