ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.1855G>A (p.Val619Ile) (rs111293777)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000757226 SCV000885374 benign not provided 2018-05-18 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000174618 SCV000225941 benign not specified 2015-04-21 criteria provided, single submitter clinical testing
GeneDx RCV000174618 SCV000530510 likely benign not specified 2016-08-01 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 RCV000292523 SCV000450291 likely benign Curry-Hall syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000352203 SCV000450292 likely benign Ellis-van Creveld Syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000637042 SCV000758490 benign Chondroectodermal dysplasia; Curry-Hall syndrome 2017-09-20 criteria provided, single submitter clinical testing
PreventionGenetics RCV000174618 SCV000316368 likely benign not specified criteria provided, single submitter clinical testing

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