ClinVar Miner

Submissions for variant NM_001036.6(RYR3):c.13769C>T (p.Thr4590Ile)

dbSNP: rs371603240
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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 RCV000637163 SCV000758611 likely benign Epileptic encephalopathy 2022-08-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV004669064 SCV005158881 uncertain significance not specified 2024-06-04 criteria provided, single submitter clinical testing The c.13769C>T (p.T4590I) alteration is located in exon 96 (coding exon 96) of the RYR3 gene. This alteration results from a C to T substitution at nucleotide position 13769, causing the threonine (T) at amino acid position 4590 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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