ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.5733+16C>T

gnomAD frequency: 0.00080  dbSNP: rs139579256
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002184801 SCV002343227 likely benign Imerslund-Grasbeck syndrome 2023-08-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002507887 SCV002803775 likely benign Imerslund-Grasbeck syndrome type 1; Proteinuria, chronic benign 2021-09-22 criteria provided, single submitter clinical testing

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