ClinVar Miner

Submissions for variant NM_018082.6(POLR3B):c.2774C>A (p.Pro925Gln)

dbSNP: rs775141057
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV000498916 SCV000492518 pathogenic Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism no assertion criteria provided clinical testing
OMIM RCV000498916 SCV002102507 pathogenic Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism 2022-03-04 no assertion criteria provided literature only

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