ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.1482G>A (p.Met494Ile)

dbSNP: rs1891561643
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001334047 SCV001526784 uncertain significance Hypertrophic cardiomyopathy 14 2018-10-28 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. This variant has been previously reported as co-segregated with incomplete penetrance in multiple individuals from one family with aortopathy, septal defects and bicuspid aortic valve [PMID 27760138]

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