ClinVar Miner

Submissions for variant NM_213599.2(ANO5):c.879-7_879-6del (rs143977836)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726163 SCV000342538 uncertain significance not provided 2018-05-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000305374 SCV000612368 uncertain significance not specified 2017-07-03 criteria provided, single submitter clinical testing
GeneDx RCV000305374 SCV000720762 likely benign not specified 2018-02-13 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.
Invitae RCV000645363 SCV000767107 benign Gnathodiaphyseal dysplasia; Limb-girdle muscular dystrophy, type 2L 2017-10-13 criteria provided, single submitter clinical testing

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