ClinVar Miner

Submissions for variant NM_015474.4(SAMHD1):c.546G>A (p.Leu182=)

gnomAD frequency: 0.00001  dbSNP: rs748150321
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001217143 SCV001388976 likely benign Aicardi-Goutieres syndrome 5 2023-10-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003326554 SCV004033885 likely benign not provided 2023-08-01 criteria provided, single submitter clinical testing SAMHD1: BP4, BP7
Natera, Inc. RCV001836161 SCV002090998 uncertain significance Aicardi Goutieres syndrome 2021-01-13 no assertion criteria provided clinical testing

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