ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.18580-8C>T

gnomAD frequency: 0.00001  dbSNP: rs199894970
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000997228 SCV001152442 uncertain significance not provided 2017-11-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001452041 SCV001655688 likely benign Nemaline myopathy 2 2023-03-22 criteria provided, single submitter clinical testing

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