ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.7971A>G (p.Pro2657=)

gnomAD frequency: 0.00030  dbSNP: rs140160866
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000863538 SCV001004221 likely benign Imerslund-Grasbeck syndrome 2023-01-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002507479 SCV002805429 likely benign Imerslund-Grasbeck syndrome type 1; Proteinuria, chronic benign 2021-07-24 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003975396 SCV004790460 likely benign CUBN-related disorder 2019-04-22 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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