ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.3910A>C (p.Ile1304Leu) (rs200737737)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000617122 SCV000318872 uncertain significance Cardiovascular phenotype 2017-04-04 criteria provided, single submitter clinical testing The p.I1304L variant (also known as c.3910A>C), located in coding exon 28 of the MYH11 gene, results from an A to C substitution at nucleotide position 3910. The isoleucine at codon 1304 is replaced by leucine, an amino acid with highly similar properties, and is located in the coiled coil domain. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Illumina Clinical Services Laboratory,Illumina RCV000243879 SCV000395295 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV001086354 SCV000641036 likely benign Aortic aneurysm, familial thoracic 4 2019-12-21 criteria provided, single submitter clinical testing
Color Health, Inc RCV000243879 SCV000904567 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-10-18 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000533441 SCV001150823 uncertain significance not provided 2017-03-01 criteria provided, single submitter clinical testing
GeneDx RCV000533441 SCV001794378 likely benign not provided 2020-08-28 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000533441 SCV001800015 uncertain significance not provided no assertion criteria provided clinical testing

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