ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.1636A>G (p.Met546Val) (rs112608085)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756097 SCV000883814 likely benign not provided 2017-10-24 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000441601 SCV000856522 likely benign not specified 2018-06-29 criteria provided, single submitter clinical testing
GeneDx RCV000441601 SCV000518612 likely benign not specified 2016-12-05 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.
Illumina Clinical Services Laboratory,Illumina RCV000280364 SCV000450271 likely benign Curry-Hall syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000334261 SCV000450272 likely benign Ellis-van Creveld Syndrome 2016-06-14 criteria provided, single submitter clinical testing

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