ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.5481G>C (p.Glu1827Asp)

gnomAD frequency: 0.00001  dbSNP: rs760865481
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001361471 SCV001557447 uncertain significance Hypertrophic cardiomyopathy 14 2021-08-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002499731 SCV002812198 uncertain significance Hypertrophic cardiomyopathy 1; Dilated cardiomyopathy 1EE; Hypertrophic cardiomyopathy 14; Atrial septal defect 3; Sick sinus syndrome 3, susceptibility to 2021-07-14 criteria provided, single submitter clinical testing

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