ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.4294-4C>T

gnomAD frequency: 0.00018  dbSNP: rs368108496
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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 RCV000250307 SCV000304931 likely benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000304590 SCV000412149 uncertain significance Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000336036 SCV000412150 uncertain significance Multiminicore myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000399614 SCV000412151 uncertain significance Central core myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000301431 SCV000412152 uncertain significance Malignant hyperthermia of anesthesia 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000250307 SCV000525565 likely benign not specified 2016-03-21 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
CeGaT Center for Human Genetics Tuebingen RCV000513035 SCV000608896 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing RYR1: BP4
Labcorp Genetics (formerly Invitae), Labcorp RCV001083634 SCV000777557 likely benign RYR1-related disorder 2024-01-25 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV003514335 SCV004358071 likely benign Malignant hyperthermia, susceptibility to, 1 2022-11-08 criteria provided, single submitter clinical testing

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