ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.4212C>T (p.Ser1404=)

dbSNP: rs544694254
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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 RCV003502555 SCV001007325 benign Imerslund-Grasbeck syndrome 2023-03-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501257 SCV002799903 likely benign Imerslund-Grasbeck syndrome type 1; Proteinuria, chronic benign 2021-09-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003908221 SCV004721738 likely benign CUBN-related disorder 2019-04-25 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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