ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.5614-8C>T

gnomAD frequency: 0.00005  dbSNP: rs376174444
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000586733 SCV000697650 likely benign not provided 2017-02-27 criteria provided, single submitter clinical testing Variant summary: c.5635-8C>T in MYH11 gene is an intronic change that involves a non-conserved nucleotide. 5/5 programs in Alamut predict that this variant does not affect the normal splicing pattern, however no functional studies supporting this notion were published at the time of evaluation. The variant is present in the control population dataset of ExAC at a frequency of 1.656e-05 (2/120806 chrs tested). The observed frequency exceed the maximum expected allele frequency for a pathogenic variant of 0.0000125. The variant is present in a control population dataset of gnomAD at a frequency of 0.00003678 (9/244728 chrs), mainly in individuals of South Asian origin: 0.0001625 (5/ 307760 chrs), however, since the data set is still in beta mode, this data was not captured in pbGP. This data suggest that the variant of interest may be an ethnic-specific functional polymorphism. The variant of interest has not, to our knowledge, been reported in affected individuals in published reports or cited by a reputable database/clinical laboratory. Considering all, the variant was classified as Likely Benign.
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000625177 SCV000744012 likely benign Aortic aneurysm, familial thoracic 4 2017-07-28 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000625177 SCV000745471 likely benign Aortic aneurysm, familial thoracic 4 2016-10-19 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001188905 SCV001356081 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-11-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000625177 SCV001648228 likely benign Aortic aneurysm, familial thoracic 4 2024-05-21 criteria provided, single submitter clinical testing

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