ClinVar Miner

Submissions for variant NM_000458.4(HNF1B):c.951C>G (p.Ala317=) (rs145750370)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000030536 SCV000053207 likely benign Renal cysts and diabetes syndrome 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely benign.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000283890 SCV000338430 likely benign not specified 2016-01-21 criteria provided, single submitter clinical testing
GeneDx RCV000283890 SCV000528124 likely benign not specified 2016-05-25 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.
Athena Diagnostics Inc RCV000993284 SCV001146121 benign not provided 2019-05-08 criteria provided, single submitter clinical testing

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