ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.1099-19T>C

gnomAD frequency: 0.37351  dbSNP: rs899691
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000247016 SCV000316359 benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000247016 SCV000331350 benign not specified 2015-10-08 criteria provided, single submitter clinical testing
GeneDx RCV000247016 SCV000516256 benign not specified 2016-03-03 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 RCV001812744 SCV000603492 benign not provided 2023-11-29 criteria provided, single submitter clinical testing
Pars Genome Lab RCV001527582 SCV001738679 benign Ellis-van Creveld syndrome 2021-06-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001660369 SCV001876209 benign Curry-Hall syndrome 2021-07-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001527582 SCV001876210 benign Ellis-van Creveld syndrome 2021-07-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002058430 SCV002326681 benign Ellis-van Creveld syndrome; Curry-Hall syndrome 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001812744 SCV005297757 benign not provided criteria provided, single submitter not provided

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