ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.122C>A (p.Pro41His)

gnomAD frequency: 0.00286  dbSNP: rs544397395
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000252966 SCV000224700 likely benign not specified 2016-07-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000252966 SCV000316117 likely benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000267094 SCV000450113 uncertain significance Ellis-van Creveld syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000387924 SCV000484084 likely benign Curry-Hall syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000267094 SCV000484085 likely benign Ellis-van Creveld syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001573247 SCV000729108 likely benign not provided 2020-10-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000637047 SCV000758495 benign Ellis-van Creveld syndrome; Curry-Hall syndrome 2025-01-23 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001573247 SCV001157352 likely benign not provided 2023-10-03 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573247 SCV001798816 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001573247 SCV001931013 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001573247 SCV001963726 likely benign not provided no assertion criteria provided clinical testing

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