ClinVar Miner

Submissions for variant NM_001348323.3(TRIP12):c.964C>A (p.Pro322Thr)

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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 RCV002935643 SCV003666271 uncertain significance Inborn genetic diseases 2022-12-06 criteria provided, single submitter clinical testing The c.838C>A (p.P280T) alteration is located in exon 3 (coding exon 2) of the TRIP12 gene. This alteration results from a C to A substitution at nucleotide position 838, causing the proline (P) at amino acid position 280 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003140189 SCV003821508 uncertain significance Clark-Baraitser syndrome 2020-06-22 criteria provided, single submitter clinical testing

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