ClinVar Miner

Submissions for variant NM_021783.5(EDA2R):c.823G>T (p.Gly275Trp)

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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 RCV004196009 SCV003695827 uncertain significance not specified 2024-11-07 criteria provided, single submitter clinical testing The c.886G>T (p.G296W) alteration is located in exon 6 (coding exon 6) of the EDA2R gene. This alteration results from a G to T substitution at nucleotide position 886, causing the glycine (G) at amino acid position 296 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen RCV003435936 SCV004165231 likely benign not provided 2022-06-01 criteria provided, single submitter clinical testing EDA2R: BP4

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