ClinVar Miner

Submissions for variant NM_001615.4(ACTG2):c.354A>G (p.Glu118=)

gnomAD frequency: 0.60595  dbSNP: rs756128
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000986777 SCV001135899 benign Visceral myopathy 1 2019-05-28 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001548836 SCV001768811 benign Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000986777 SCV001768812 benign Visceral myopathy 1 2021-07-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004709012 SCV005240783 benign not provided criteria provided, single submitter not provided

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