ClinVar Miner

Submissions for variant NM_001081.3(CUBN):c.2594G>A (p.Ser865Asn) (rs138083522)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000255679 SCV000859044 likely benign not specified 2018-01-24 criteria provided, single submitter clinical testing
GeneDx RCV000255679 SCV000321528 likely benign not specified 2017-03-20 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000534645 SCV000637261 likely benign Megaloblastic anemia due to inborn errors of metabolism 2017-08-07 criteria provided, single submitter clinical testing

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