ClinVar Miner

Submissions for variant NM_024570.4(RNASEH2B):c.54C>T (p.Phe18=)

dbSNP: rs2137866619
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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 RCV002167012 SCV002332557 likely benign Aicardi-Goutieres syndrome 2 2021-08-18 criteria provided, single submitter clinical testing

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