ClinVar Miner

Submissions for variant NM_000119.2(EPB42):c.424G>A (p.Ala142Thr) (rs104894487)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center RCV000014138 SCV000267302 uncertain significance Spherocytosis type 5 2016-03-18 criteria provided, single submitter reference population
OMIM RCV000014138 SCV000034386 pathogenic Spherocytosis type 5 1999-07-01 no assertion criteria provided literature only
GeneReviews RCV000014138 SCV000153761 pathogenic Spherocytosis type 5 2014-03-13 no assertion criteria provided literature only

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