ClinVar Miner

Submissions for variant NM_213599.2(ANO5):c.680G>C (p.Gly227Ala) (rs140903276)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000388640 SCV000333998 likely benign not specified 2015-09-09 criteria provided, single submitter clinical testing
GeneDx RCV000388640 SCV000522201 likely benign not specified 2017-11-27 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 RCV000710581 SCV000645922 likely benign not provided 2019-02-06 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000710581 SCV000840823 likely benign not provided 2019-06-19 criteria provided, single submitter clinical testing
Mendelics RCV000988503 SCV001138250 likely benign Gnathodiaphyseal dysplasia 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000710581 SCV001148204 uncertain significance not provided 2016-05-01 criteria provided, single submitter clinical testing

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