ClinVar Miner

Submissions for variant NM_006397.3(RNASEH2A):c.127+16C>T

gnomAD frequency: 0.00005  dbSNP: rs780296539
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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 RCV002141680 SCV002415677 likely benign Aicardi-Goutieres syndrome 4 2023-12-17 criteria provided, single submitter clinical testing

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