ClinVar Miner

Submissions for variant NM_031433.4(MFRP):c.159T>C (p.Gly53=)

gnomAD frequency: 0.00011  dbSNP: rs372897338
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000177383 SCV000229232 uncertain significance not provided 2014-10-21 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000373614 SCV000368042 uncertain significance Retinal degeneration 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV001479559 SCV001683862 likely benign Isolated microphthalmia 5 2023-10-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004537430 SCV004744589 likely benign MFRP-related disorder 2019-05-09 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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