ClinVar Miner

Submissions for variant NM_024570.4(RNASEH2B):c.39C>T (p.Ala13=)

gnomAD frequency: 0.00001  dbSNP: rs571566229
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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 RCV002162803 SCV002416970 likely benign Aicardi-Goutieres syndrome 2 2023-11-15 criteria provided, single submitter clinical testing

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