ClinVar Miner

Submissions for variant NM_001100.4(ACTA1):c.809-13_809-12dup

dbSNP: rs201427429
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000307674 SCV000355337 uncertain significance Familial restrictive cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000362335 SCV000355338 uncertain significance Nemaline myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001795910 SCV000355339 uncertain significance Congenital myopathy with fiber type disproportion 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002522117 SCV003494569 likely benign Actin accumulation myopathy 2023-11-18 criteria provided, single submitter clinical testing

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