ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.492+19G>A (rs9869985)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000029451 SCV000052101 benign Familial hypocalciuric hypercalcemia 2011-08-18 criteria provided, single submitter curation Converted during submission to Benign.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078686 SCV000110546 benign not specified 2013-08-22 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000078686 SCV000306966 benign not specified criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000710098 SCV000612672 benign not provided 2017-07-13 criteria provided, single submitter clinical testing
GeneDx RCV000078686 SCV000714029 benign not specified 2017-12-13 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.

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