ClinVar Miner

Submissions for variant NM_001100.4(ACTA1):c.455-53A>C

gnomAD frequency: 0.99850  dbSNP: rs527621
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000836004 SCV000977829 benign not provided 2018-06-14 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.
Genome-Nilou Lab RCV001549051 SCV001769120 benign Progressive scapulohumeroperoneal distal myopathy 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001549052 SCV001769121 benign Actin accumulation myopathy 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001549053 SCV001769122 benign Congenital myopathy with fiber type disproportion 2021-07-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000836004 SCV005284160 benign not provided criteria provided, single submitter not provided

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