ClinVar Miner

Submissions for variant NM_024570.4(RNASEH2B):c.222T>C (p.Phe74=)

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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 RCV003602396 SCV004445908 likely benign Aicardi-Goutieres syndrome 2 2023-03-22 criteria provided, single submitter clinical testing

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