ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.14701G>A (p.Glu4901Lys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital RCV001249650 SCV001423608 likely pathogenic Central core myopathy; Minicore myopathy 2018-04-16 criteria provided, single submitter clinical testing [ACMG/AMP: PM1, PM3, PP2, PP3] This alteration is located in a mutational hotspot and/or critical and well-established functional domain [PM1], is detected in trans with a known pathogenic variant [PM3], is a missense variant in a gene in which missense variants are a common mechanism of disease [PP2], is predicted to be damaging by multiple functional prediction tools [PP3].

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