ClinVar Miner

Submissions for variant NM_005337.5(NCKAP1L):c.915C>T (p.Thr305=)

gnomAD frequency: 0.00080  dbSNP: rs146168841
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002948899 SCV003278897 benign not provided 2025-01-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003906384 SCV004724455 likely benign NCKAP1L-related disorder 2022-08-16 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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