ClinVar Miner

Submissions for variant NM_001481.3(GAS8):c.833G>A (p.Arg278His)

gnomAD frequency: 0.00781  dbSNP: rs117053233
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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 RCV000525271 SCV000655803 benign Primary ciliary dyskinesia 33 2024-01-18 criteria provided, single submitter clinical testing
GeneDx RCV001584345 SCV001810913 likely benign not provided 2020-06-12 criteria provided, single submitter clinical testing
Genetics and Molecular Pathology, SA Pathology RCV000525271 SCV002761370 benign Primary ciliary dyskinesia 33 2019-08-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001584345 SCV004184626 benign not provided 2024-08-01 criteria provided, single submitter clinical testing GAS8: BP4, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV001584345 SCV005215910 likely benign not provided criteria provided, single submitter not provided

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