ClinVar Miner

Submissions for variant NM_031433.4(MFRP):c.773-9C>T

gnomAD frequency: 0.00176  dbSNP: rs187321874
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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) RCV000179981 SCV000232312 benign not specified 2014-10-22 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000285258 SCV000368006 uncertain significance Retinal degeneration 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000340484 SCV000368007 uncertain significance Isolated microphthalmia 6 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000877972 SCV001020795 benign Isolated microphthalmia 5 2024-01-31 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000179981 SCV001979020 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001729431 SCV001980507 likely benign not provided no assertion criteria provided clinical testing

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