ClinVar Miner

Submissions for variant NM_015215.4(CAMTA1):c.1350G>A (p.Ser450=)

dbSNP: rs12128526
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001594839 SCV001829196 benign not provided 2018-08-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001594839 SCV003326744 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003343639 SCV004049285 benign Cerebellar dysfunction with variable cognitive and behavioral abnormalities 2023-04-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001594839 SCV005285789 benign not provided criteria provided, single submitter not provided
Genetic Services Laboratory, University of Chicago RCV000116536 SCV000150488 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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