ClinVar Miner

Submissions for variant NM_001039348.3(EFEMP1):c.1001-14C>T

gnomAD frequency: 0.05588  dbSNP: rs45535043
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000246458 SCV000306127 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000342143 SCV000431294 benign Doyne honeycomb retinal dystrophy 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Eurofins Ntd Llc (ga) RCV000246458 SCV000703494 benign not specified 2016-12-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001510104 SCV001717046 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001510104 SCV001840091 benign not provided 2021-06-19 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27884173, 25082885)
Breakthrough Genomics, Breakthrough Genomics RCV001510104 SCV005244204 benign not provided criteria provided, single submitter not provided

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