ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.2370G>A (p.Ala790=)

gnomAD frequency: 0.00004  dbSNP: rs553605812
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000726140 SCV000342362 uncertain significance not provided 2017-09-06 criteria provided, single submitter clinical testing
GeneDx RCV000384090 SCV000725996 likely benign not specified 2018-01-03 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 RCV001396652 SCV001598388 likely benign Qualitative or quantitative defects of dysferlin 2024-09-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV001271791 SCV001453231 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B 2019-12-31 no assertion criteria provided clinical testing

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