ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.864C>T (p.Asn288=)

gnomAD frequency: 0.00320  dbSNP: rs144730069
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000357517 SCV000337647 likely benign not specified 2015-12-07 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000374082 SCV000450101 likely benign Ellis-van Creveld syndrome 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
GeneDx RCV001091298 SCV000516346 likely benign not provided 2020-10-13 criteria provided, single submitter clinical testing
Invitae RCV000757231 SCV000634709 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 RCV001091298 SCV000885379 likely benign not provided 2023-11-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001091298 SCV001247241 likely benign not provided 2022-05-01 criteria provided, single submitter clinical testing EVC2: BP4, BP7

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