ClinVar Miner

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

gnomAD frequency: 0.00341  dbSNP: rs73198165
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Total submissions: 8
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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.
Eurofins Ntd Llc (ga) RCV000345805 SCV000332629 benign not specified 2015-06-22 criteria provided, single submitter clinical testing
GeneDx RCV000224436 SCV000518626 benign not provided 2018-07-23 criteria provided, single submitter clinical testing
Invitae RCV001082655 SCV001021373 benign Ellis-van Creveld syndrome; Curry-Hall syndrome 2024-01-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000224436 SCV001159407 benign not provided 2022-03-17 criteria provided, single submitter clinical testing
Illumina Laboratory Services, 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.
CeGaT Center for Human Genetics Tuebingen RCV000224436 SCV002821239 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing EVC2: BP4, BS2
PreventionGenetics, part of Exact Sciences RCV003937874 SCV004749151 likely benign EVC2-related disorder 2020-01-03 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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