ClinVar Miner

Submissions for variant NM_018082.6(POLR3B):c.72+184_72+188del

dbSNP: rs139244819
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001645551 SCV001857002 benign not provided 2018-11-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501983 SCV002804708 benign Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome; Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism; Charcot-Marie-Tooth disease, demyelinating, IIA 1I 2021-10-25 criteria provided, single submitter clinical testing

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