ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.5355G>A (p.Leu1785=)

gnomAD frequency: 0.00003  dbSNP: rs199509575
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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 RCV001474512 SCV001678683 likely benign Imerslund-Grasbeck syndrome 2019-05-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501636 SCV002807265 likely benign Imerslund-Grasbeck syndrome type 1; Proteinuria, chronic benign 2021-09-28 criteria provided, single submitter clinical testing

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