ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.1263G>A (p.Gly421=) (rs139834701)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038720 SCV000062398 benign not specified 2012-07-17 criteria provided, single submitter clinical testing Gly421Gly in Exon 12 of LDB3: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue, is not located within the splice consensus sequence and has been identified in 0.9% (35/3738) of Afric an American chromosomes from a broad population by the NHLBI Exome Sequencing Pr oject (http://evs.gs.washington.edu/EVS; dbSNP rs139834701).
Invitae RCV000226780 SCV000289615 benign Myofibrillar myopathy, ZASP-related 2018-01-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV000621718 SCV000735299 benign Cardiovascular phenotype 2016-01-28 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign,Subpopulation frequency in support of benign classification,General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance

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