ClinVar Miner

Submissions for variant NM_001330360.2(POLA1):c.346G>A (p.Gly116Arg)

dbSNP: rs1569271892
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, University of Leuven RCV000791333 SCV000902452 pathogenic X-linked intellectual disability, van Esch type 2019-02-01 no assertion criteria provided research We performed segregation analysis, X-inactivation studies, Western blot and functional studies that support a clear pathogenic effect.
OMIM RCV000791333 SCV000930635 pathogenic X-linked intellectual disability, van Esch type 2019-08-05 no assertion criteria provided literature only

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