ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.1033+4A>T (rs1397221551)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000594895 SCV000703112 uncertain significance not provided 2016-10-28 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000594895 SCV001143827 likely pathogenic not provided 2019-06-28 criteria provided, single submitter clinical testing The best available variant frequency is uninformative because there are too few occurrences in population data. Found in at least one symptomatic patient. Predicted to negatively affect a known splice site. Nucleotide conservation is uninformative. Occurs in three or more cases with a recessive pathogenic variant in the same gene.

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