ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.2110+18T>C

gnomAD frequency: 0.00075  dbSNP: rs117028815
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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 RCV002125517 SCV002444386 benign Imerslund-Grasbeck syndrome 2023-12-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500204 SCV002811315 likely benign Imerslund-Grasbeck syndrome type 1; Proteinuria, chronic benign 2021-10-06 criteria provided, single submitter clinical testing

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