ClinVar Miner

Submissions for variant NM_015040.4(PIKFYVE):c.2344C>T (p.Arg782Ter)

gnomAD frequency: 0.00001  dbSNP: rs992128517
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Molecular Pathology, SA Pathology RCV001731226 SCV001981640 pathogenic Fleck corneal dystrophy 2020-03-24 criteria provided, single submitter clinical testing

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