ClinVar Miner

Submissions for variant NM_031433.4(MFRP):c.629G>T (p.Gly210Val)

gnomAD frequency: 0.00344  dbSNP: rs150902999
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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) RCV000153495 SCV000203013 benign not specified 2013-08-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000153495 SCV000314782 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000393840 SCV000368011 uncertain significance Retinal degeneration 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000878012 SCV001020849 likely benign Isolated microphthalmia 5 2024-01-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001532669 SCV001748335 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing C1QTNF5: BS2; MFRP: BP4, BS2

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