ClinVar Miner

Submissions for variant NM_031433.4(MFRP):c.1549C>T (p.Arg517Trp)

gnomAD frequency: 0.00001  dbSNP: rs730882144
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV000161916 SCV004801209 uncertain significance Isolated microphthalmia 5 2024-03-14 criteria provided, single submitter research
OMIM RCV000161916 SCV000211946 pathogenic Isolated microphthalmia 5 2011-06-01 no assertion criteria provided literature only

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