ClinVar Miner

Submissions for variant NM_033118.4(MYLK2):c.1778C>T (p.Ala593Val)

gnomAD frequency: 0.00051  dbSNP: rs146497334
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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 RCV000472668 SCV000556762 likely benign Hypertrophic cardiomyopathy 1 2024-10-16 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV001449724 SCV001652989 benign not specified 2020-06-15 criteria provided, single submitter clinical testing The p.Ala593Val variant in MYLK2 is classified as benign because it has been identified in 0.16% (41/24934) of African chromosomes by gnomAD (http://gnomad.broadinstitute.org). ACMG/AMP Criteria applied: BA1.
GeneDx RCV001576934 SCV001804219 likely benign not provided 2018-10-05 criteria provided, single submitter clinical testing
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV000472668 SCV003807255 uncertain significance Hypertrophic cardiomyopathy 1 2022-06-06 criteria provided, single submitter clinical testing ACMG classification criteria: BP4 supporting

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