ClinVar Miner

Submissions for variant NM_001199107.2(TBC1D24):c.297G>A (p.Thr99=)

gnomAD frequency: 0.00002  dbSNP: rs767766165
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000604228 SCV000731813 likely benign not specified 2017-08-03 criteria provided, single submitter clinical testing p.Thr99Thr in exon 2 of TBC1D24: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 5/30776 South Asi an chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadin stitute.org/; dbSNP rs767766165).
Labcorp Genetics (formerly Invitae), Labcorp RCV000871831 SCV001013555 likely benign Developmental and epileptic encephalopathy, 1; Autosomal dominant nonsyndromic hearing loss 65; Caused by mutation in the TBC1 domain family, member 24 2022-07-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001726267 SCV001961561 likely benign not provided 2022-01-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004547756 SCV004710570 likely benign TBC1D24-related disorder 2021-06-22 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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