ClinVar Miner

Submissions for variant NM_031433.4(MFRP):c.975+18T>C

gnomAD frequency: 0.00589  dbSNP: rs185451482
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001523204 SCV001732875 benign Isolated microphthalmia 5 2024-01-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000058875 SCV004129502 benign not provided 2023-02-01 criteria provided, single submitter clinical testing C1QTNF5: BS1, BS2
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation RCV000058875 SCV000090395 not provided not provided no assertion provided not provided

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