ClinVar Miner

Submissions for variant NM_018082.6(POLR3B):c.1112_1113del (p.Leu371fs)

dbSNP: rs2037451732
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001268678 SCV001447783 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
GeneReviews RCV001542042 SCV001760682 not provided Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism no assertion provided literature only

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