ClinVar Miner

Submissions for variant NM_017721.5(CC2D1A):c.2402C>T (p.Thr801Met)

gnomAD frequency: 0.18775  dbSNP: rs2305777
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002312060 SCV000846180 benign Inborn genetic diseases 2016-03-17 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Genome-Nilou Lab RCV001554356 SCV001775582 benign Intellectual disability, autosomal recessive 3 2021-07-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003669105 SCV004393082 benign not provided 2025-01-27 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV003669105 SCV005315343 benign not provided criteria provided, single submitter not provided
Genetic Services Laboratory, University of Chicago RCV000116591 SCV000150554 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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