ClinVar Miner

Submissions for variant NM_032193.4(RNASEH2C):c.72C>A (p.Ala24=)

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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 RCV002766407 SCV003021175 likely benign Aicardi-Goutieres syndrome 3 2024-10-22 criteria provided, single submitter clinical testing

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