ClinVar Miner

Submissions for variant NM_031433.4(MFRP):c.1635G>A (p.Ala545=)

gnomAD frequency: 0.00631  dbSNP: rs138370910
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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) RCV000174606 SCV000225928 benign not specified 2014-06-25 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000399455 SCV000367965 likely benign Retinal degeneration 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000878667 SCV001021605 benign Isolated microphthalmia 5 2024-01-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001726019 SCV002585362 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing C1QTNF5: BS2; MFRP: BP4, BP7, BS2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001726019 SCV001967168 likely benign not provided no assertion criteria provided clinical testing

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