ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.6309C>T (p.Ile2103=)

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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 RCV003612323 SCV004547773 likely benign Imerslund-Grasbeck syndrome 2023-01-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005037021 SCV005673580 uncertain significance Imerslund-Grasbeck syndrome type 1; Proteinuria, chronic benign 2024-04-28 criteria provided, single submitter clinical testing

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