ClinVar Miner

Submissions for variant NM_024570.4(RNASEH2B):c.64+8C>T

gnomAD frequency: 0.00018  dbSNP: rs957777357
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000874622 SCV001016818 likely benign Aicardi-Goutieres syndrome 2 2024-01-29 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001703244 SCV001932144 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001703244 SCV001968653 likely benign not provided no assertion criteria provided clinical testing

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