ClinVar Miner

Submissions for variant NM_001369387.1(GNAL):c.66C>T (p.Arg22=)

gnomAD frequency: 0.00965  dbSNP: rs73397885
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000232301 SCV000286219 benign Dystonic disorder 2025-01-27 criteria provided, single submitter clinical testing
GeneDx RCV001582769 SCV001814004 likely benign not provided 2021-04-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001582769 SCV005217145 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003919939 SCV004733230 benign GNAL-related disorder 2019-03-13 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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