ClinVar Miner

Submissions for variant NM_032906.5(PYURF):c.289_290dup (p.Gln97fs)

dbSNP: rs1431826489
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Wellcome Centre for Mitochondrial Research, Newcastle University RCV001537634 SCV001470705 pathogenic Mitochondrial disease 2021-01-18 no assertion criteria provided clinical testing

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