ClinVar Miner

Submissions for variant NM_016579.4(CD320):c.142+10G>C

gnomAD frequency: 0.04348  dbSNP: rs2232776
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000124170 SCV000167584 benign not specified 2013-11-26 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001523336 SCV001733029 benign Methylmalonic acidemia due to transcobalamin receptor defect 2025-02-02 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004717000 SCV005309007 benign not provided criteria provided, single submitter not provided

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