ClinVar Miner

Submissions for variant NM_018896.5(CACNA1G):c.5144G>A (p.Arg1715His) (rs755221106)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics,Fulgent Genetics RCV000763013 SCV000893458 pathogenic Spinocerebellar ataxia 42; SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS 2018-10-31 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000207440 SCV000593821 pathogenic Spinocerebellar ataxia 42 2016-06-02 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV000509294 SCV000607251 not provided CACNA1G-related disorders no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
OMIM RCV000207440 SCV000262713 pathogenic Spinocerebellar ataxia 42 2018-08-14 no assertion criteria provided literature only

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