ClinVar Miner

Submissions for variant NM_006397.3(RNASEH2A):c.132C>A (p.Pro44=)

dbSNP: rs752762157
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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 RCV003613391 SCV004456261 likely benign Aicardi-Goutieres syndrome 4 2023-04-09 criteria provided, single submitter clinical testing

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