ClinVar Miner

Submissions for variant NM_006731.2(FKTN):c.1023G>A (p.Pro341=) (rs146967918)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000617387 SCV000737037 likely benign Cardiovascular phenotype 2017-11-27 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000387391 SCV000338031 likely benign not specified 2015-12-08 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000029799 SCV000052454 likely benign Cardiomyopathy 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely benign.
Invitae RCV000456531 SCV000557839 benign Walker-Warburg congenital muscular dystrophy 2018-01-04 criteria provided, single submitter clinical testing

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