ClinVar Miner

Submissions for variant NM_004667.6(HERC2):c.8867C>T (p.Thr2956Met)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003135561 SCV003810774 uncertain significance not provided 2023-07-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV004985289 SCV005603087 uncertain significance Inborn genetic diseases 2024-09-03 criteria provided, single submitter clinical testing The c.8867C>T (p.T2956M) alteration is located in exon 57 (coding exon 56) of the HERC2 gene. This alteration results from a C to T substitution at nucleotide position 8867, causing the threonine (T) at amino acid position 2956 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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