ClinVar Miner

Submissions for variant NM_020461.4(TUBGCP6):c.1612G>A (p.Asp538Asn)

gnomAD frequency: 0.00212  dbSNP: rs139934957
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000905576 SCV001050164 benign not provided 2025-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000905576 SCV001873470 likely benign not provided 2021-02-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV002540226 SCV003700013 likely benign Inborn genetic diseases 2021-08-13 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV003977922 SCV004788432 benign TUBGCP6-related disorder 2019-09-13 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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