ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.7406C>T (p.Pro2469Leu)

dbSNP: rs202229367
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001335637 SCV001528826 uncertain significance Imerslund-Grasbeck syndrome type 1 2018-03-16 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Fulgent Genetics, Fulgent Genetics RCV002486339 SCV002789597 uncertain significance Imerslund-Grasbeck syndrome type 1; Proteinuria, chronic benign 2022-05-25 criteria provided, single submitter clinical testing

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