ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.11726-10A>T

gnomAD frequency: 0.00561  dbSNP: rs185916947
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000506502 SCV000603398 likely benign not specified 2017-06-07 criteria provided, single submitter clinical testing
GeneDx RCV001696978 SCV000720787 benign not provided 2019-03-07 criteria provided, single submitter clinical testing
Invitae RCV000634191 SCV000755492 benign Jeune thoracic dystrophy 2024-02-01 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001102877 SCV001259576 benign Asphyxiating thoracic dystrophy 3 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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.

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