ClinVar Miner

Submissions for variant NM_000337.6(SGCD):c.-59G>A

gnomAD frequency: 0.00008  dbSNP: rs375477247
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669755 SCV000794537 uncertain significance Dilated cardiomyopathy 1L; Autosomal recessive limb-girdle muscular dystrophy type 2F 2017-09-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000669755 SCV002791248 uncertain significance Dilated cardiomyopathy 1L; Autosomal recessive limb-girdle muscular dystrophy type 2F 2021-08-18 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003233120 SCV003931740 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2F 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003233121 SCV003931741 likely benign Dilated cardiomyopathy 1L 2023-02-08 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000154667 SCV000204344 not provided not specified 2012-01-24 no assertion provided clinical testing

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