ClinVar Miner

Submissions for variant NM_001098511.3(KIF2A):c.1737C>T (p.Asp579=)

gnomAD frequency: 0.00036  dbSNP: rs200042213
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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 RCV000894547 SCV001038536 likely benign not provided 2025-01-19 criteria provided, single submitter clinical testing
GeneDx RCV000894547 SCV001889650 benign not provided 2021-04-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003968172 SCV004783217 likely benign KIF2A-related disorder 2022-11-21 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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