ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.1411-12T>C

gnomAD frequency: 0.00001  dbSNP: rs749244720
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001334046 SCV001526783 uncertain significance Atrial septal defect 3 2018-05-14 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV002070176 SCV002362516 likely benign Hypertrophic cardiomyopathy 14 2024-02-12 criteria provided, single submitter clinical testing

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