ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.2029C>A (p.Arg677=) (rs73198165)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224436 SCV000281059 likely benign not provided 2016-01-21 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000345805 SCV000332629 benign not specified 2015-06-22 criteria provided, single submitter clinical testing
GeneDx RCV000345805 SCV000518626 likely benign not specified 2016-08-15 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.
Invitae RCV001082655 SCV001021373 benign Ellis-van Creveld syndrome; Curry-Hall syndrome 2019-12-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000345805 SCV001159407 benign not specified 2019-05-09 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001154618 SCV001315994 uncertain significance Ellis-van Creveld syndrome 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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