ClinVar Miner

Submissions for variant NM_015474.4(SAMHD1):c.275+8T>A

gnomAD frequency: 0.00086  dbSNP: rs186225001
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000961696 SCV001108748 benign Aicardi-Goutieres syndrome 5 2024-01-30 criteria provided, single submitter clinical testing
Natera, Inc. RCV001273106 SCV001455693 uncertain significance Aicardi Goutieres syndrome 2020-01-17 no assertion criteria provided clinical testing

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