ClinVar Miner

Submissions for variant NM_020884.7(MYH7B):c.989A>G (p.Glu330Gly)

gnomAD frequency: 0.00499  dbSNP: rs200924846
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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 RCV000892380 SCV001036245 likely benign not provided 2024-01-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000892380 SCV004152625 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing MYH7B: BP4, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000892380 SCV005208636 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003920781 SCV004733830 benign MYH7B-related disorder 2019-10-02 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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