ClinVar Miner

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

dbSNP: 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 Laboratory Services,Illumina RCV000349353 SCV000365236 uncertain significance Pol III-related leukodystrophy 2016-06-14 criteria provided, single submitter clinical testing
Eurofins NTD LLC (GA) RCV000593957 SCV000703835 uncertain significance not provided 2016-11-16 criteria provided, single submitter clinical testing
Invitae RCV000593957 SCV001040042 benign not provided 2021-11-22 criteria provided, single submitter clinical testing

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