ClinVar Miner

Submissions for variant NM_001481.3(GAS8):c.245G>A (p.Arg82Gln)

dbSNP: rs884928
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000533791 SCV000655795 benign Primary ciliary dyskinesia 33 2024-01-20 criteria provided, single submitter clinical testing
GeneDx RCV001584344 SCV001811205 likely benign not provided 2020-10-08 criteria provided, single submitter clinical testing
Genetics and Molecular Pathology, SA Pathology RCV000533791 SCV002761371 likely benign Primary ciliary dyskinesia 33 2019-08-27 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001584344 SCV005215908 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003925714 SCV004744899 benign GAS8-related disorder 2019-10-16 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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