ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.1035C>T (p.Ile345=) (rs121908336)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000150924 SCV000170113 benign not specified 2014-05-13 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.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000150924 SCV000198560 likely benign not specified 2014-11-06 criteria provided, single submitter clinical testing p.Ile345Ile in exon 10 of LDB3: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 7/8600 of European American chromosomes by the NHLBI Exome Sequencing Project (; dbSNP rs121908336).
PreventionGenetics,PreventionGenetics RCV000150924 SCV000311688 benign not specified criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000996134 SCV001150620 likely benign not provided 2017-03-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001285092 SCV001471444 likely benign none provided 2020-06-02 criteria provided, single submitter clinical testing
Invitae RCV001483220 SCV001687605 likely benign Myofibrillar myopathy, ZASP-related 2020-11-13 criteria provided, single submitter clinical testing

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