ClinVar Miner

Submissions for variant NM_001372574.1(ATXN2):c.57A>G (p.Gln19=)

gnomAD frequency: 0.13779  dbSNP: rs76696028
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Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breakthrough Genomics, Breakthrough Genomics RCV004707383 SCV005231475 benign not provided criteria provided, single submitter not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000625510 SCV000746001 likely benign Spinocerebellar ataxia type 2 2016-03-28 no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001701138 SCV001921220 benign not specified no assertion criteria provided clinical testing

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