ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.631+39dup

dbSNP: rs35018208
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Minimum conflict level:
ClinVar version:
Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000245195 SCV000304973 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000721608 SCV001858612 benign not provided 2018-10-27 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001795406 SCV002032882 benign Central core myopathy 2021-11-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001795408 SCV002032883 benign King Denborough syndrome 2021-11-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001795407 SCV002032884 benign Congenital multicore myopathy with external ophthalmoplegia 2021-11-07 criteria provided, single submitter clinical testing

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