ClinVar Miner

Submissions for variant NM_006397.3(RNASEH2A):c.333C>T (p.Tyr111=)

gnomAD frequency: 0.00001  dbSNP: rs764935201
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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 RCV001468120 SCV001672158 likely benign Aicardi-Goutieres syndrome 4 2019-02-14 criteria provided, single submitter clinical testing

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