ClinVar Miner

Submissions for variant NM_018896.5(CACNA1G):c.6774T>C (p.Pro2258=)

gnomAD frequency: 0.44850  dbSNP: rs739925
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001554556 SCV001775810 benign Spinocerebellar ataxia type 42 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001554557 SCV001775811 benign Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001658291 SCV001872574 benign not provided 2020-09-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001658291 SCV003343926 benign not provided 2024-01-30 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001658291 SCV005252262 benign not provided criteria provided, single submitter not provided

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