ClinVar Miner

Submissions for variant NM_001348323.3(TRIP12):c.2273G>A (p.Cys758Tyr)

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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 RCV002952120 SCV003694619 uncertain significance Inborn genetic diseases 2022-01-26 criteria provided, single submitter clinical testing The c.2129G>A (p.C710Y) alteration is located in exon 15 (coding exon 14) of the TRIP12 gene. This alteration results from a G to A substitution at nucleotide position 2129, causing the cysteine (C) at amino acid position 710 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003140199 SCV003821501 uncertain significance Clark-Baraitser syndrome 2020-04-09 criteria provided, single submitter clinical testing

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