ClinVar Miner

Submissions for variant NM_031471.6(FERMT3):c.130G>A (p.Gly44Arg)

gnomAD frequency: 0.00578  dbSNP: rs149000560
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000175957 SCV000227535 benign not specified 2015-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001081827 SCV000647839 benign Leukocyte adhesion deficiency 3 2024-01-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000526322 SCV001148314 benign not provided 2022-06-01 criteria provided, single submitter clinical testing FERMT3: BS1, BS2

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