ClinVar Miner

Submissions for variant NM_018475.5(TMEM165):c.15T>C (p.Ala5=)

gnomAD frequency: 0.00001  dbSNP: rs764693617
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000607007 SCV000724402 likely benign not specified 2017-11-30 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002064149 SCV002357651 likely benign TMEM165-congenital disorder of glycosylation 2024-06-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003962789 SCV004783285 likely benign TMEM165-related disorder 2020-04-29 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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