ClinVar Miner

Submissions for variant NM_138638.5(CFL2):c.312-7del

dbSNP: rs35515423
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000404309 SCV000386611 benign Nemaline Myopathy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001701951 SCV000729932 benign not provided 2018-06-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001517043 SCV001725440 benign Nemaline myopathy 7 2025-02-03 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000607301 SCV001740942 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001701951 SCV001927907 likely benign not provided no assertion criteria provided clinical testing

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