ClinVar Miner

Submissions for variant NM_031433.4(MFRP):c.770G>A (p.Arg257His)

gnomAD frequency: 0.03023  dbSNP: rs61736238
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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) RCV000179544 SCV000231805 benign not specified 2015-02-23 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000401047 SCV000368008 likely benign Retinal degeneration 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000555680 SCV000646078 benign Isolated microphthalmia 5 2024-01-29 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001107090 SCV001264220 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.
GeneDx RCV001675659 SCV001895872 benign not provided 2021-05-04 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27884173, 18648522, 20981092)
Breakthrough Genomics, Breakthrough Genomics RCV001675659 SCV005211282 likely benign not provided criteria provided, single submitter not provided

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