ClinVar Miner

Submissions for variant NM_139343.3(BIN1):c.698+14C>T

gnomAD frequency: 0.00001  dbSNP: rs376710764
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000612577 SCV000727182 likely benign not specified 2018-02-05 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 RCV002064284 SCV002455819 likely benign Myopathy, centronuclear, 2 2023-11-27 criteria provided, single submitter clinical testing

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