ClinVar Miner

Submissions for variant NM_007055.4(POLR3A):c.1771-5del (rs544204280)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000349353 SCV000365236 uncertain significance Pol III-related leukodystrophy 2016-06-14 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000593957 SCV000703835 uncertain significance not provided 2016-11-16 criteria provided, single submitter clinical testing
Invitae RCV000593957 SCV001040042 benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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