ClinVar Miner

Submissions for variant NM_032193.4(RNASEH2C):c.*948dup

dbSNP: rs142614068
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000319735 SCV000373136 likely benign Aicardi Goutieres syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001764273 SCV001989655 benign not provided 2021-08-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502206 SCV002796039 benign Aicardi-Goutieres syndrome 3 2021-10-21 criteria provided, single submitter clinical testing

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