ClinVar Miner

Submissions for variant NM_018082.6(POLR3B):c.1670A>G (p.Asn557Ser)

dbSNP: rs2037539502
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001334981 SCV001528002 uncertain significance Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism 2018-05-15 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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