ClinVar Miner

Submissions for variant NM_000337.6(SGCD):c.3+20G>A

gnomAD frequency: 0.00013  dbSNP: rs187786098
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000128031 SCV000171621 benign not specified 2016-03-25 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002055799 SCV002467923 benign Autosomal recessive limb-girdle muscular dystrophy type 2F 2025-02-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002055799 SCV003931758 benign Autosomal recessive limb-girdle muscular dystrophy type 2F 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003233109 SCV003931759 benign Dilated cardiomyopathy 1L 2023-02-08 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000128031 SCV003934455 benign not specified 2023-05-15 criteria provided, single submitter clinical testing

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