ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.4696-16G>T

gnomAD frequency: 0.00504  dbSNP: rs140260072
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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 RCV002204829 SCV002352804 benign Imerslund-Grasbeck syndrome 2025-01-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002486828 SCV002798019 benign Imerslund-Grasbeck syndrome type 1; Proteinuria, chronic benign 2021-09-25 criteria provided, single submitter clinical testing

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