ClinVar Miner

Submissions for variant NM_198271.5(LMOD3):c.1667C>A (p.Pro556Gln)

gnomAD frequency: 0.00023  dbSNP: rs201205115
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000202913 SCV000258279 uncertain significance not specified 2015-04-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000540110 SCV000655495 likely benign Nemaline myopathy 10 2025-01-27 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000540110 SCV003817012 likely benign Nemaline myopathy 10 2023-12-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003437005 SCV004150460 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing LMOD3: BS1

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