ClinVar Miner

Submissions for variant NM_001256545.2(MEGF10):c.2176G>A (p.Ala726Thr)

gnomAD frequency: 0.00016  dbSNP: rs139884665
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000874594 SCV001016786 likely benign MEGF10-related myopathy 2024-01-21 criteria provided, single submitter clinical testing
Baylor Genetics RCV000874594 SCV001530249 uncertain significance MEGF10-related myopathy 2018-10-24 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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