ClinVar Miner

Submissions for variant NM_203290.4(POLR1C):c.550C>G (p.Leu184Val)

gnomAD frequency: 0.00070  dbSNP: rs149840242
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002121924 SCV002443881 likely benign not provided 2024-05-23 criteria provided, single submitter clinical testing
GeneDx RCV002121924 SCV005391083 uncertain significance not provided 2024-04-04 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; In silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Has not been previously published as pathogenic or benign to our knowledge

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