ClinVar Miner

Submissions for variant NM_015474.4(SAMHD1):c.571A>G (p.Ile191Val)

dbSNP: rs1303667371
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003489844 SCV004232537 likely pathogenic not specified 2024-01-18 criteria provided, single submitter research
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000723336 SCV000854733 uncertain significance Aicardi-Goutieres syndrome 5 2018-07-19 no assertion criteria provided clinical testing

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