ClinVar Miner

Submissions for variant NM_001199107.2(TBC1D24):c.972A>C (p.Ser324=)

gnomAD frequency: 0.00001  dbSNP: rs886043654
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000297556 SCV000341313 uncertain significance not provided 2016-04-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002059222 SCV002454606 likely benign Developmental and epileptic encephalopathy, 1; Autosomal dominant nonsyndromic hearing loss 65; Caused by mutation in the TBC1 domain family, member 24 2022-09-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002374473 SCV002692680 likely benign Inborn genetic diseases 2017-09-30 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004767218 SCV005381081 likely benign not specified 2024-08-14 criteria provided, single submitter clinical testing

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