ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.7615-7G>A

gnomAD frequency: 0.00133  dbSNP: rs146159174
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000254119 SCV000305012 benign not specified 2017-03-06 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000334928 SCV000412459 likely benign Malignant hyperthermia of anesthesia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000405221 SCV000412460 likely benign Central core myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000304639 SCV000412461 likely benign Multiminicore myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, 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 RCV000254119 SCV000614915 benign not specified 2021-03-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000547201 SCV000660032 benign RYR1-related disorder 2024-01-29 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV003514338 SCV004358136 benign Malignant hyperthermia, susceptibility to, 1 2022-10-11 criteria provided, single submitter clinical testing

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