ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.7615-7G>A (rs146159174)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000254119 SCV000305012 benign not specified 2017-03-06 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000334928 SCV000412459 likely benign Malignant hyperthermia susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000405221 SCV000412460 likely benign Central core myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000304639 SCV000412461 likely benign Multiminicore Disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000343291 SCV000412462 likely benign Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001697624 SCV000529782 benign not provided 2018-04-25 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000254119 SCV000614915 benign not specified 2021-03-03 criteria provided, single submitter clinical testing
Invitae RCV000547201 SCV000660032 benign RYR1-Related Disorders 2020-11-24 criteria provided, single submitter clinical testing

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