ClinVar Miner

Submissions for variant NM_006397.3(RNASEH2A):c.199+9G>C

gnomAD frequency: 0.00048  dbSNP: rs370775997
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000919359 SCV001064703 likely benign Aicardi-Goutieres syndrome 4 2024-01-15 criteria provided, single submitter clinical testing

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