ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.8446A>G (p.Met2816Val)

dbSNP: rs775492883
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000626286 SCV000746944 likely pathogenic Congenital myopathy with fiber type disproportion 2020-05-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002529788 SCV003574941 uncertain significance Inborn genetic diseases 2021-08-02 criteria provided, single submitter clinical testing The c.8446A>G (p.M2816V) alteration is located in exon 54 (coding exon 54) of the RYR1 gene. This alteration results from a A to G substitution at nucleotide position 8446, causing the methionine (M) at amino acid position 2816 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003133414 SCV003814400 uncertain significance not provided 2021-03-19 criteria provided, single submitter clinical testing

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