ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.10420T>C (p.Leu3474=)

gnomAD frequency: 0.00001  dbSNP: rs1057523427
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000417728 SCV000531969 likely benign not specified 2016-10-05 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001415900 SCV001618069 likely benign Nemaline myopathy 2 2024-01-18 criteria provided, single submitter clinical testing

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