ClinVar Miner

Submissions for variant NM_024570.4(RNASEH2B):c.240A>G (p.Gln80=)

gnomAD frequency: 0.00003  dbSNP: rs781187392
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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 RCV000896510 SCV001040602 likely benign Aicardi-Goutieres syndrome 2 2024-05-08 criteria provided, single submitter clinical testing

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