ClinVar Miner

Submissions for variant NM_001286577.2(C2CD3):c.3929T>C (p.Ile1310Thr)

gnomAD frequency: 0.00004  dbSNP: rs757220593
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000395477 SCV000342600 uncertain significance not provided 2016-07-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000395477 SCV002457319 likely benign not provided 2024-08-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003949918 SCV004758376 likely benign C2CD3-related disorder 2022-10-14 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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