ClinVar Miner

Submissions for variant NM_024570.4(RNASEH2B):c.136+8C>T

gnomAD frequency: 0.00001  dbSNP: rs891972892
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Claritas Genomics RCV000449576 SCV000537849 uncertain significance Global developmental delay 2017-02-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001474591 SCV001678762 likely benign Aicardi-Goutieres syndrome 2 2024-07-26 criteria provided, single submitter clinical testing

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