ClinVar Miner

Submissions for variant NM_015040.4(PIKFYVE):c.3500C>G (p.Ser1167Ter)

dbSNP: rs780579562
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center RCV000490347 SCV000267447 likely pathogenic Fleck corneal dystrophy 2016-03-18 criteria provided, single submitter reference population

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