ClinVar Miner

Submissions for variant NM_001039141.3(TRIOBP):c.964G>T (p.Ala322Ser)

gnomAD frequency: 0.00014  dbSNP: rs201693690
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001337110 SCV001530687 uncertain significance Autosomal recessive nonsyndromic hearing loss 28 2018-02-07 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV001547848 SCV001767646 likely benign not provided 2020-11-17 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 30140248)
Labcorp Genetics (formerly Invitae), Labcorp RCV001547848 SCV002410691 benign not provided 2023-11-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003953675 SCV004767830 benign TRIOBP-related disorder 2019-12-24 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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