ClinVar Miner

Submissions for variant NM_004977.3(KCNC3):c.1080C>T (p.Thr360=)

gnomAD frequency: 0.00009  dbSNP: rs142937043
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV001289022 SCV001476518 benign not specified 2020-01-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002070088 SCV002404190 benign not provided 2024-12-12 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003918830 SCV004728452 likely benign KCNC3-related disorder 2019-06-27 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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