ClinVar Miner

Submissions for variant NM_001036.6(RYR3):c.10063C>T (p.Arg3355Trp)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV003990545 SCV004807288 uncertain significance Congenital myopathy 20 2024-03-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV004674010 SCV005158898 uncertain significance not specified 2024-05-15 criteria provided, single submitter clinical testing The c.10063C>T (p.R3355W) alteration is located in exon 71 (coding exon 71) of the RYR3 gene. This alteration results from a C to T substitution at nucleotide position 10063, causing the arginine (R) at amino acid position 3355 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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