ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.9939T>C (p.Ala3313=)

gnomAD frequency: 0.00327  dbSNP: rs192003811
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000380832 SCV000366791 likely benign Asphyxiating thoracic dystrophy 3 2018-01-13 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Illumina Laboratory Services, Illumina RCV000269938 SCV000366792 uncertain significance Jeune thoracic dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000269938 SCV000630960 benign Jeune thoracic dystrophy 2024-01-31 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000727890 SCV000855395 likely benign not specified 2017-07-13 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000727890 SCV000883763 benign not specified 2019-04-12 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000756052 SCV001148396 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing DYNC2H1: BP4
GeneDx RCV000756052 SCV001914159 benign not provided 2020-01-10 criteria provided, single submitter clinical testing

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