ClinVar Miner

Submissions for variant NM_015474.4(SAMHD1):c.760A>G (p.Met254Val)

dbSNP: rs121434521
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
OMIM RCV000004288 SCV000024454 pathogenic Aicardi-Goutieres syndrome 5 2009-07-01 no assertion criteria provided literature only
GeneReviews RCV000004288 SCV000147938 not provided Aicardi-Goutieres syndrome 5 no assertion provided literature only

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