ClinVar Miner

Submissions for variant NM_005022.4(PFN1):c.341T>G (p.Met114Arg)

dbSNP: rs387907265
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000415115 SCV000492599 likely pathogenic Lower limb muscle weakness 2016-04-15 no assertion criteria provided clinical testing

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