ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.2015T>C (p.Leu672Ser)

gnomAD frequency: 0.00001  dbSNP: rs765225625
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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 RCV001883040 SCV002141018 likely benign Nemaline myopathy 2 2023-05-15 criteria provided, single submitter clinical testing

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