ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.8514A>C (p.Lys2838Asn) (rs140171924)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000272700 SCV000412575 likely benign Malignant hyperthermia susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000327865 SCV000412576 likely benign Multiminicore Disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000387044 SCV000412577 likely benign Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000292819 SCV000412578 likely benign Myopathy, Central Core 2016-06-14 criteria provided, single submitter clinical testing

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