ClinVar Miner

Submissions for variant NM_152263.4(TPM3):c.776-49T>C

gnomAD frequency: 0.62465  dbSNP: rs4845364
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000246581 SCV000316147 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000829388 SCV000971112 benign not provided 2018-06-14 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.
Genome-Nilou Lab RCV001838605 SCV002098679 benign Congenital myopathy 4B, autosomal recessive 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001838604 SCV002098680 benign Congenital myopathy with fiber type disproportion 2021-09-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000829388 SCV005279931 benign not provided criteria provided, single submitter not provided

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