ClinVar Miner

Submissions for variant NM_005859.5(PURA):c.9_12dup (p.Asp5fs)

dbSNP: rs1763034422
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001092020 SCV001248353 pathogenic not provided 2019-02-01 criteria provided, single submitter clinical testing

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