ClinVar Miner

Submissions for variant NM_006397.3(RNASEH2A):c.75C>T (p.Arg25=)

dbSNP: rs397515479
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000056302 SCV000087471 pathogenic Aicardi-Goutieres syndrome 4 2007-10-01 no assertion criteria provided literature only
GeneReviews RCV000056302 SCV000147916 not provided Aicardi-Goutieres syndrome 4 no assertion provided literature only

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