ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.4050C>T (p.Thr1350=)

gnomAD frequency: 0.00024  dbSNP: rs138751942
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000440153 SCV000535847 likely benign not specified 2017-01-10 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.
Invitae RCV001080294 SCV000649678 likely benign Qualitative or quantitative defects of dysferlin 2023-12-18 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000711558 SCV000841937 likely benign not provided 2017-10-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003970247 SCV004777138 likely benign DYSF-related condition 2019-08-29 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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