ClinVar Miner

Submissions for variant NM_006731.2(FKTN):c.*5578G>A (rs41277801)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000306603 SCV000476517 uncertain significance Fukuyama congenital muscular dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000363583 SCV000476518 uncertain significance Dilated Cardiomyopathy, Recessive 2016-06-14 criteria provided, single submitter clinical testing

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