ClinVar Miner

Submissions for variant NM_001270891.2(TRAPPC6A):c.277T>A (p.Tyr93Asn)

gnomAD frequency: 0.00240  dbSNP: rs142501705
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breakthrough Genomics, Breakthrough Genomics RCV000993668 SCV005194671 uncertain significance not provided criteria provided, single submitter not provided
OMIM RCV000993668 SCV001146800 uncertain significance not provided 2020-01-17 no assertion criteria provided literature only
PreventionGenetics, part of Exact Sciences RCV003953403 SCV004771559 likely benign TRAPPC6A-related disorder 2021-12-10 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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