ClinVar Miner

Submissions for variant NM_001377405.1(ATXN7):c.2137C>T (p.Leu713=)

gnomAD frequency: 0.10687  dbSNP: rs3733125
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breakthrough Genomics, Breakthrough Genomics RCV004716948 SCV005305594 benign not provided criteria provided, single submitter not provided
Genetic Services Laboratory, University of Chicago RCV000116486 SCV000150419 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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