ClinVar Miner

Submissions for variant NM_024570.4(RNASEH2B):c.189A>G (p.Val63=)

gnomAD frequency: 0.01095  dbSNP: rs35595258
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000426622 SCV000514410 benign not specified 2015-12-04 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000650224 SCV000772061 benign Aicardi-Goutieres syndrome 2 2025-02-02 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004708796 SCV005230346 benign not provided criteria provided, single submitter not provided
Athena Diagnostics RCV000426622 SCV005620891 benign not specified 2024-06-11 criteria provided, single submitter clinical testing

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