ClinVar Miner

Submissions for variant NM_138691.3(TMC1):c.2129+15T>A

gnomAD frequency: 0.00008  dbSNP: rs747921456
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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 RCV000825840 SCV000967319 likely benign not specified 2017-08-23 criteria provided, single submitter clinical testing c.2129+15T>A in intron 21 of TMC1: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 0.21% (18/8654) of East Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exa c.broadinstitute.org; dbSNP rs747921456).
Labcorp Genetics (formerly Invitae), Labcorp RCV002067424 SCV002449103 benign not provided 2024-01-25 criteria provided, single submitter clinical testing

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