ClinVar Miner

Submissions for variant NM_031433.4(MFRP):c.1374G>T (p.Leu458Phe)

gnomAD frequency: 0.00888  dbSNP: rs145881139
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000252407 SCV000314777 likely benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000358935 SCV000367976 likely benign Retinal degeneration 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000877886 SCV001020695 benign Isolated microphthalmia 5 2024-01-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002292500 SCV002585363 benign not provided 2024-02-01 criteria provided, single submitter clinical testing C1QTNF5: BS1, BS2; MFRP: BP4, BS1, BS2

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