ClinVar Miner

Submissions for variant NM_024570.4(RNASEH2B):c.925del (p.Ile309fs)

dbSNP: rs75254367
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000992757 SCV001145280 benign not provided 2018-09-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001514995 SCV001722974 benign Aicardi-Goutieres syndrome 2 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000992757 SCV001787756 uncertain significance not provided 2021-06-09 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation as the last 4 amino acids are lost and replaced with 25 incorrect amino acids, although loss-of-function variants have not been reported downstream of this position in the protein; Has not been previously published as pathogenic or benign to our knowledge

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