ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.723C>T (p.Ser241=)

gnomAD frequency: 0.00001  dbSNP: rs200580597
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services,Illumina RCV000312674 SCV000365596 uncertain significance Myofibrillar myopathy 4 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV000367463 SCV000365597 uncertain significance Left ventricular noncompaction cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV000393350 SCV000365598 uncertain significance Myofibrillar Myopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV000313701 SCV000365599 uncertain significance Dilated cardiomyopathy 1C 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Invitae RCV000312674 SCV001633173 likely benign Myofibrillar myopathy 4 2021-04-20 criteria provided, single submitter clinical testing
GeneDx RCV001683214 SCV001901455 benign not provided 2015-03-03 criteria provided, single submitter clinical testing

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