ClinVar Miner

Submissions for variant NM_001206999.2(CIT):c.243C>T (p.Ser81=)

gnomAD frequency: 0.00081  dbSNP: rs139308004
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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 RCV000881528 SCV001024713 likely benign not provided 2025-01-06 criteria provided, single submitter clinical testing
GeneDx RCV000881528 SCV001789340 likely benign not provided 2020-10-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003975535 SCV004787459 likely benign CIT-related disorder 2020-03-10 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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