ClinVar Miner

Submissions for variant NM_006397.3(RNASEH2A):c.747G>A (p.Ala249=)

gnomAD frequency: 0.00029  dbSNP: rs144494263
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000976573 SCV001124478 likely benign Aicardi-Goutieres syndrome 4 2024-01-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003962930 SCV004783884 likely benign RNASEH2A-related condition 2020-09-14 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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