ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.1086C>T (p.Asn362=)

gnomAD frequency: 0.00002  dbSNP: rs375189593
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001496251 SCV001700947 likely benign Hypertrophic cardiomyopathy 14 2024-04-07 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001700760 SCV001921262 benign not specified no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001726570 SCV001962869 likely benign not provided no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004533882 SCV004714059 likely benign MYH6-related disorder 2020-09-04 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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