ClinVar Miner

Submissions for variant NM_001256789.3(CACNA1F):c.5763G>A (p.Thr1921=)

gnomAD frequency: 0.00027  dbSNP: rs190606884
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001512011 SCV001719348 benign not provided 2023-10-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003966069 SCV004787268 likely benign CACNA1F-related disorder 2019-06-06 criteria provided, single submitter 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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