ClinVar Miner

Submissions for variant NM_033109.5(PNPT1):c.420del (p.Leu141fs)

dbSNP: rs1572834021
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Rare Disease Group, Clinical Genetics, Karolinska Institutet RCV000787359 SCV000926321 likely pathogenic Neurodevelopmental disorder 2019-04-09 criteria provided, single submitter clinical testing

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