ClinVar Miner

Submissions for variant NM_016042.4(EXOSC3):c.202G>T (p.Gly68Cys)

dbSNP: rs745785017
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Molecular Pathology, SA Pathology RCV002272766 SCV002556944 uncertain significance Pontocerebellar hypoplasia type 1B 2020-07-23 criteria provided, single submitter clinical testing

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