ClinVar Miner

Submissions for variant NM_000119.2(EPB42):c.929G>A (p.Arg310Gln)

dbSNP: rs121917734
Minimum review status: Collection method:
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV000014140 SCV004238175 likely pathogenic Hereditary spherocytosis type 5 2023-04-27 criteria provided, single submitter clinical testing
OMIM RCV000014140 SCV000034388 pathogenic Hereditary spherocytosis type 5 1995-04-01 no assertion criteria provided literature only
GeneReviews RCV000014140 SCV000153764 not provided Hereditary spherocytosis type 5 no assertion provided literature only

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