ClinVar Miner

Submissions for variant NM_032193.4(RNASEH2C):c.147G>T (p.Thr49=)

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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 RCV003497233 SCV004344688 likely benign Aicardi-Goutieres syndrome 3 2023-12-09 criteria provided, single submitter clinical testing

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