ClinVar Miner

Submissions for variant NM_000337.6(SGCD):c.3+11C>T

gnomAD frequency: 0.00010  dbSNP: rs374790317
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000249761 SCV000303686 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000249761 SCV000514613 likely benign not specified 2017-10-31 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 RCV002057341 SCV002405120 benign Autosomal recessive limb-girdle muscular dystrophy type 2F 2024-01-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500860 SCV002805686 likely benign Dilated cardiomyopathy 1L; Autosomal recessive limb-girdle muscular dystrophy type 2F 2021-10-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002057341 SCV003931753 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2F 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003233515 SCV003931754 likely benign Dilated cardiomyopathy 1L 2023-02-08 criteria provided, single submitter clinical testing

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