ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.9297C>T (p.Tyr3099=)

gnomAD frequency: 0.00001  dbSNP: rs754292924
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001460345 SCV001664213 likely benign Imerslund-Grasbeck syndrome 2019-02-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002506535 SCV002796563 likely benign Imerslund-Grasbeck syndrome type 1; Proteinuria, chronic benign 2022-04-21 criteria provided, single submitter clinical testing

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