ClinVar Miner

Submissions for variant NM_004237.4(TRIP13):c.1226G>A (p.Gly409Glu)

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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 RCV004169823 SCV003656612 uncertain significance not specified 2021-07-14 criteria provided, single submitter clinical testing The c.1226G>A (p.G409E) alteration is located in exon 13 (coding exon 13) of the TRIP13 gene. This alteration results from a G to A substitution at nucleotide position 1226, causing the glycine (G) at amino acid position 409 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV005099857 SCV005775420 likely benign not provided 2025-01-19 criteria provided, single submitter clinical testing

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