ClinVar Miner

Submissions for variant NM_020461.4(TUBGCP6):c.3417C>T (p.Asn1139=)

gnomAD frequency: 0.00043  dbSNP: rs142163520
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001442812 SCV001645767 likely benign not provided 2024-12-24 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003946156 SCV004763785 likely benign TUBGCP6-related disorder 2019-03-20 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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