ClinVar Miner

Submissions for variant NM_007055.4(POLR3A):c.1771-7C>A

dbSNP: rs201314157
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000971117 SCV001118737 likely benign not provided 2024-01-26 criteria provided, single submitter clinical testing
GeneDx RCV000971117 SCV001988212 uncertain significance not provided 2022-10-27 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Nucleotide substitution has no predicted effect on splicing and is not conserved across species; In silico analysis supports that this variant does not alter splicing; This variant is associated with the following publications: (PMID: 28459997)
CeGaT Center for Human Genetics Tuebingen RCV000971117 SCV002585231 likely benign not provided 2022-08-01 criteria provided, single submitter clinical testing POLR3A: BP4

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