ClinVar Miner

Submissions for variant NM_015474.4(SAMHD1):c.368A>C (p.His123Pro)

gnomAD frequency: 0.00001  dbSNP: rs121434520
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 RCV000004287 SCV000024453 pathogenic Aicardi-Goutieres syndrome 5 2009-07-01 no assertion criteria provided literature only
GeneReviews RCV000004287 SCV000147929 not provided Aicardi-Goutieres syndrome 5 no assertion provided literature only

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