ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.1276+5G>A (rs766433603)

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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 RCV000726343 SCV000343954 pathogenic not provided 2017-07-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000404212 SCV000613176 uncertain significance not specified 2017-01-13 criteria provided, single submitter clinical testing
Counsyl RCV000675165 SCV000800782 likely pathogenic Limb-girdle muscular dystrophy, type 2B 2017-08-16 criteria provided, single submitter clinical testing

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