ClinVar Miner

Submissions for variant NM_006950.3(SYN1):c.980+14C>T

gnomAD frequency: 0.00157  dbSNP: rs376734047
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000128350 SCV000171943 benign not specified 2013-07-25 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 RCV002055833 SCV002402474 benign Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders 2025-01-23 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004713357 SCV005277709 benign not provided criteria provided, single submitter not provided
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV004713357 SCV005876844 benign not provided 2023-12-19 criteria provided, single submitter clinical testing

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