ClinVar Miner

Submissions for variant NM_001100.4(ACTA1):c.809-13dup

dbSNP: rs201427429
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000079467 SCV000306564 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001795088 SCV000355334 likely benign Congenital myopathy with fiber type disproportion 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000342623 SCV000355335 likely benign Familial restrictive cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000404872 SCV000355336 likely benign Nemaline myopathy 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001650907 SCV001862113 benign not provided 2016-02-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002055119 SCV002359703 benign Actin accumulation myopathy 2024-02-01 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000079467 SCV000111346 benign not specified 2013-10-29 no assertion criteria provided clinical testing

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