ClinVar Miner

Submissions for variant NM_024570.4(RNASEH2B):c.426A>G (p.Thr142=)

dbSNP: rs2137952831
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002166968 SCV002332192 likely benign Aicardi-Goutieres syndrome 2 2024-07-16 criteria provided, single submitter clinical testing

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