ClinVar Miner

Submissions for variant NM_001036.6(RYR3):c.7040C>T (p.Ser2347Leu)

gnomAD frequency: 0.00007  dbSNP: rs781065862
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001481852 SCV001686206 likely benign Epileptic encephalopathy 2019-12-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV004037219 SCV003663780 uncertain significance not specified 2022-11-17 criteria provided, single submitter clinical testing The c.7040C>T (p.S2347L) alteration is located in exon 47 (coding exon 47) of the RYR3 gene. This alteration results from a C to T substitution at nucleotide position 7040, causing the serine (S) at amino acid position 2347 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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