ClinVar Miner

Submissions for variant NM_020320.5(RARS2):c.214C>G (p.Leu72Val)

dbSNP: rs1562212838
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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 RCV000680081 SCV000807521 uncertain significance Pontocerebellar hypoplasia type 6 2017-09-01 criteria provided, single submitter clinical testing Likely pathogenicity based on finding it once in our laboratory with a pathogenic variant in a 13-year-old male with intellectual disability, epilepsy, truncal ataxia, growth retardation

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