ClinVar Miner

Submissions for variant NM_024570.4(RNASEH2B):c.129C>A (p.Pro43=)

gnomAD frequency: 0.00001  dbSNP: rs199839728
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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 RCV002172622 SCV002337964 likely benign Aicardi-Goutieres syndrome 2 2023-12-05 criteria provided, single submitter clinical testing

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