ClinVar Miner

Submissions for variant NM_018082.6(POLR3B):c.2511del (p.Ile838fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV003387557 SCV004099009 pathogenic Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism 2023-08-02 criteria provided, single submitter clinical testing PVS1, PM2, PM3

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