ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.3086-9C>T

gnomAD frequency: 0.00036  dbSNP: rs185350547
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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) RCV000725375 SCV000336462 uncertain significance not provided 2015-10-13 criteria provided, single submitter clinical testing
GeneDx RCV000176935 SCV000724257 likely benign not specified 2017-11-06 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 RCV001086193 SCV001013671 likely benign Qualitative or quantitative defects of dysferlin 2024-12-06 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000725375 SCV001143815 likely benign not provided 2018-09-28 criteria provided, single submitter clinical testing

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