ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.1407G>A (p.Thr469=) (rs150093305)

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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 RCV000725584 SCV000337920 uncertain significance not provided 2018-03-15 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000259934 SCV000613178 likely benign not specified 2017-06-16 criteria provided, single submitter clinical testing
Invitae RCV000557144 SCV000649602 likely benign Dysferlinopathy 2017-11-30 criteria provided, single submitter clinical testing

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