ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.4485T>C (p.His1495=)

gnomAD frequency: 0.00001  dbSNP: rs781005189
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001491224 SCV001695809 likely benign Nemaline myopathy 2 2020-01-01 criteria provided, single submitter clinical testing

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