ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.14970delG

dbSNP: rs1568613962
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota RCV000761350 SCV000891336 likely pathogenic Central core myopathy 2017-02-08 criteria provided, single submitter clinical testing

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