ClinVar Miner

Submissions for variant NM_001199107.2(TBC1D24):c.867G>A (p.Ala289=)

dbSNP: rs1328290571
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Total submissions: 2
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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 RCV000605372 SCV000713057 likely benign not specified 2017-02-21 criteria provided, single submitter clinical testing p.Ala289Ala in exon 2 of TBC1D24: This variant is not expected to have clinical significance because it does not alter an amino acid residue and it is not locat ed within the splice consensus sequence. It has been identified in 1/112070 Eur opean chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broa dinstitute.org).
Invitae RCV002062141 SCV002402039 likely benign Developmental and epileptic encephalopathy, 1; Autosomal dominant nonsyndromic hearing loss 65; Caused by mutation in the TBC1 domain family, member 24 2023-12-21 criteria provided, single submitter clinical testing

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