ClinVar Miner

Submissions for variant NM_015474.4(SAMHD1):c.1743G>A (p.Pro581=)

gnomAD frequency: 0.00007  dbSNP: rs374642075
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000917920 SCV001063213 likely benign Aicardi-Goutieres syndrome 5 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003222172 SCV003916296 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing SAMHD1: BP4, BP7
Natera, Inc. RCV001272061 SCV001453690 uncertain significance Aicardi Goutieres syndrome 2020-01-24 no assertion criteria provided clinical testing

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