ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.9705G>A (p.Thr3235=)

gnomAD frequency: 0.00031  dbSNP: rs370784621
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000861852 SCV001002262 likely benign Imerslund-Grasbeck syndrome 2023-05-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501204 SCV002807579 likely benign Imerslund-Grasbeck syndrome type 1; Proteinuria, chronic benign 2021-09-13 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004705796 SCV005226967 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV004742659 SCV005350595 likely benign CUBN-related disorder 2024-04-26 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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