ClinVar Miner

Submissions for variant NM_000426.3(LAMA2):c.6150T>C (p.Asp2050=) (rs114766691)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078785 SCV000110645 benign not specified 2013-03-14 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000078785 SCV000304169 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000078785 SCV000535650 likely benign not specified 2017-08-10 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 RCV000078785 SCV000613975 benign not specified 2017-06-21 criteria provided, single submitter clinical testing
Invitae RCV000560842 SCV000658731 benign not provided 2019-03-05 criteria provided, single submitter clinical testing

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