ClinVar Miner

Submissions for variant NM_031433.4(MFRP):c.355A>G (p.Ile119Val)

gnomAD frequency: 0.01611  dbSNP: rs4639950
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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) RCV000178370 SCV000230439 benign not specified 2015-02-23 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000334278 SCV000368027 likely benign Retinal degeneration 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000877864 SCV001020668 benign Isolated microphthalmia 5 2024-01-26 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001107826 SCV001265009 benign Late-onset retinal degeneration 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.
Illumina Laboratory Services, Illumina RCV000877864 SCV001265010 likely benign Isolated microphthalmia 5 2018-01-12 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.
Fulgent Genetics, Fulgent Genetics RCV002492783 SCV002804551 likely benign Isolated microphthalmia 5; Nanophthalmos 2 2022-03-31 criteria provided, single submitter clinical testing

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