ClinVar Miner

Submissions for variant NM_000337.6(SGCD):c.4-12C>T

gnomAD frequency: 0.00004  dbSNP: rs727504580
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000155753 SCV000205464 uncertain significance not specified 2013-05-17 criteria provided, single submitter clinical testing
Counsyl RCV000668303 SCV000792881 uncertain significance Dilated cardiomyopathy 1L; Autosomal recessive limb-girdle muscular dystrophy type 2F 2017-07-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002056102 SCV002371924 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2F 2024-12-19 criteria provided, single submitter clinical testing

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