ClinVar Miner

Submissions for variant NM_001080495.3(TNRC18):c.7584G>T (p.Glu2528Asp)

dbSNP: rs538690867
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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 RCV000977713 SCV001125632 benign not provided 2018-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV004030001 SCV003738880 uncertain significance not specified 2022-07-08 criteria provided, single submitter clinical testing The c.7584G>T (p.E2528D) alteration is located in exon 27 (coding exon 26) of the TNRC18 gene. This alteration results from a G to T substitution at nucleotide position 7584, causing the glutamic acid (E) at amino acid position 2528 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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