ClinVar Miner

Submissions for variant NM_001199862.2(KCNAB2):c.1032C>T (p.Ala344=)

gnomAD frequency: 0.00004  dbSNP: rs547813742
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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 RCV000924528 SCV001070042 benign not provided 2018-03-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000924528 SCV005281048 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003913116 SCV004730734 likely benign KCNAB2-related disorder 2019-03-20 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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