ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.8068-29_8068-27del

dbSNP: rs796750554
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000249718 SCV000305037 benign not specified 2013-10-25 criteria provided, single submitter clinical testing
GeneDx RCV001636750 SCV001851961 benign not provided 2019-05-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001795409 SCV002032928 benign Central core myopathy 2021-11-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001795411 SCV002032930 benign King Denborough syndrome 2021-11-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001795410 SCV002032931 benign Congenital multicore myopathy with external ophthalmoplegia 2021-11-07 criteria provided, single submitter clinical testing

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