ClinVar Miner

Submissions for variant NM_000232.4(SGCB):c.9_14dup (p.Ala8_Ala9dup) (rs886044103)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000481425 SCV000568911 likely benign not specified 2015-11-17 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 RCV000540129 SCV000642389 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2E 2018-12-12 criteria provided, single submitter clinical testing This variant, c.9_14dupAGCGGC, results in the insertion of 2 amino acid(s) to the SGCB protein (p.Ala8_Ala9dup), but otherwise preserves the integrity of the reading frame. While this variant is not present in population databases, the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with SGCB-related disease. ClinVar contains an entry for this variant (Variation ID: 420206). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the duplicated amino acids is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000726289 SCV000701335 uncertain significance not provided 2018-07-23 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000726289 SCV001145589 uncertain significance not provided 2018-11-01 criteria provided, single submitter clinical testing

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