ClinVar Miner

Submissions for variant NM_213595.4(ISCU):c.229-5T>C

gnomAD frequency: 0.00014  dbSNP: rs761922921
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000429495 SCV000513293 benign not specified 2015-06-08 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 RCV002061407 SCV002374188 likely benign not provided 2023-12-31 criteria provided, single submitter clinical testing

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