ClinVar Miner

Submissions for variant NM_031433.4(MFRP):c.1256-4G>A

gnomAD frequency: 0.00010  dbSNP: rs142533439
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000174169 SCV000225424 uncertain significance not provided 2016-03-30 criteria provided, single submitter clinical testing
Invitae RCV001078655 SCV001100418 likely benign Isolated microphthalmia 5 2024-01-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004539606 SCV004782820 likely benign MFRP-related disorder 2019-11-06 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).
Clinical Genetics, Academic Medical Center RCV000174169 SCV001979174 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000174169 SCV001980237 likely benign not provided no assertion criteria provided clinical testing

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