ClinVar Miner

Submissions for variant NM_006731.2(FKTN):c.920G>A (p.Arg307Gln) (rs119463992)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724028 SCV000700705 pathogenic not provided 2017-06-15 criteria provided, single submitter clinical testing
OMIM RCV000003362 SCV000023520 pathogenic Limb-girdle muscular dystrophy-dystroglycanopathy, type C4 2009-05-26 no assertion criteria provided literature only
OMIM RCV000003363 SCV000023521 pathogenic Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B4 2009-05-26 no assertion criteria provided literature only

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