ClinVar Miner

Submissions for variant NM_020297.4(ABCC9):c.4512+16C>T

gnomAD frequency: 0.00049  dbSNP: rs376147813
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000439158 SCV000511924 benign not specified 2015-06-25 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001810878 SCV001474631 likely benign not provided 2019-11-11 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000439158 SCV002103796 benign not specified 2022-02-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002061324 SCV002420945 benign Dilated cardiomyopathy 1O 2023-12-19 criteria provided, single submitter clinical testing

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