ClinVar Miner

Submissions for variant NM_001348323.3(TRIP12):c.748G>A (p.Ala250Thr)

gnomAD frequency: 0.00001  dbSNP: rs539119124
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001837257 SCV002097770 uncertain significance Clark-Baraitser syndrome 2021-01-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002542800 SCV003710185 likely benign Inborn genetic diseases 2022-05-30 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen RCV003434329 SCV004151584 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing TRIP12: PP2, BP4, BS1

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