ClinVar Miner

Submissions for variant NM_033284.2(TBL1Y):c.457+1G>C

gnomAD frequency: 0.00044  dbSNP: rs77259694
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000892140 SCV001036000 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495397 SCV002803653 likely benign Deafness, Y-linked 2 2021-08-10 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003930818 SCV004743648 likely benign TBL1Y-related disorder 2020-01-06 no assertion criteria provided 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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