ClinVar Miner

Submissions for variant NM_016579.4(CD320):c.769G>A (p.Glu257Lys)

gnomAD frequency: 0.01308  dbSNP: rs2232786
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000515042 SCV000521831 benign not provided 2021-01-20 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000515042 SCV000610186 likely benign not provided 2017-02-22 criteria provided, single submitter clinical testing
Invitae RCV001084723 SCV001106434 benign Methylmalonic acidemia due to transcobalamin receptor defect 2024-01-26 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001084723 SCV004563845 benign Methylmalonic acidemia due to transcobalamin receptor defect 2023-09-22 criteria provided, single submitter clinical testing

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