ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.4560C>T (p.Phe1520=) (rs544993852)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000356459 SCV000334278 benign not specified 2016-05-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000327172 SCV000431826 uncertain significance Miyoshi myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000379509 SCV000431827 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000542418 SCV000649695 benign not provided 2019-01-03 criteria provided, single submitter clinical testing

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