ClinVar Miner

Submissions for variant NM_213599.2(ANO5):c.155A>G (rs143777403)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723959 SCV000230496 uncertain significance not provided 2018-05-03 criteria provided, single submitter clinical testing
GeneDx RCV000178421 SCV000516949 likely benign not specified 2017-11-10 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 RCV000723959 SCV000612355 uncertain significance not provided 2018-11-01 criteria provided, single submitter clinical testing
Invitae RCV000723959 SCV000645894 benign not provided 2019-02-15 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000723959 SCV000891959 uncertain significance not provided 2019-01-01 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000178421 SCV000923747 uncertain significance not specified 2019-01-01 criteria provided, single submitter clinical testing
Mendelics RCV000988500 SCV001138247 uncertain significance Gnathodiaphyseal dysplasia 2019-05-28 criteria provided, single submitter clinical testing

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