ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.14804-6C>T

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002878660 SCV003631723 uncertain significance Inborn genetic diseases 2022-07-21 criteria provided, single submitter clinical testing The c.14804-6C>T intronic alteration results from a C to T substitution 6 nucleotides before coding exon 103 of the RYR1 gene. This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003757246 SCV004536764 likely benign RYR1-related disorder 2023-02-28 criteria provided, single submitter clinical testing

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