ClinVar Miner

Submissions for variant NM_033118.4(MYLK2):c.972+13C>T

gnomAD frequency: 0.00001  dbSNP: rs876657524
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000218240 SCV000270493 likely benign not specified 2015-07-01 criteria provided, single submitter clinical testing c.972+13C>T in intron 6 of MYLK2: This variant is not expected to have clinical significance because it is not located within the splice consensus sequence.
GeneDx RCV000218240 SCV000519022 likely benign not specified 2015-10-16 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV003522950 SCV004270771 likely benign Hypertrophic cardiomyopathy 1 2022-12-29 criteria provided, single submitter clinical testing

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