ClinVar Miner

Submissions for variant NM_139343.3(BIN1):c.775-13G>T

dbSNP: rs778119265
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000615175 SCV000718813 likely benign not specified 2017-04-28 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 RCV002529519 SCV003483719 likely benign Myopathy, centronuclear, 2 2023-02-14 criteria provided, single submitter clinical testing

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