ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.52C>T (p.Leu18Phe)

gnomAD frequency: 0.17921  dbSNP: rs6820907
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000248616 SCV000316136 benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000248616 SCV000331735 benign not specified 2015-12-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000289860 SCV000450114 benign Ellis-van Creveld syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000289860 SCV000484088 benign Ellis-van Creveld syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000347215 SCV000484089 benign Curry-Hall syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000248616 SCV000516345 benign not specified 2016-04-08 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001812742 SCV000885376 benign not provided 2023-11-29 criteria provided, single submitter clinical testing
Invitae RCV001511703 SCV001718988 benign Ellis-van Creveld syndrome; Curry-Hall syndrome 2024-02-01 criteria provided, single submitter clinical testing

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