ClinVar Miner

Submissions for variant NM_032193.4(RNASEH2C):c.39C>T (p.Arg13=)

gnomAD frequency: 0.00001  dbSNP: rs1335036466
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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 RCV001392371 SCV001594013 likely benign Aicardi-Goutieres syndrome 3 2023-12-09 criteria provided, single submitter clinical testing

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