ClinVar Miner

Submissions for variant NM_015215.4(CAMTA1):c.1377C>T (p.Asn459=)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002966252 SCV003277696 likely benign not provided 2023-12-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002966252 SCV004128097 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing CAMTA1: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV004548433 SCV004789853 likely benign CAMTA1-related disorder 2019-08-01 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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