ClinVar Miner

Submissions for variant NM_198271.5(LMOD3):c.1655C>A (p.Pro552His)

gnomAD frequency: 0.01335  dbSNP: rs145387235
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000555899 SCV000655493 benign Nemaline myopathy 10 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001653921 SCV001866593 benign not provided 2019-09-06 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 29923248)
CeGaT Center for Human Genetics Tuebingen RCV001653921 SCV002821198 benign not provided 2024-11-01 criteria provided, single submitter clinical testing LMOD3: BS1, BS2
Molecular Genetics, Royal Melbourne Hospital RCV000555899 SCV004812453 benign Nemaline myopathy 10 2023-05-04 criteria provided, single submitter clinical testing European Non-Finnish population allele frequency is 1.729% (rs145387235, 2288/126934 alleles, 23 homozygotes in gnomAD v2.1). Based on the classification scheme RMH Modified ACMG/AMP Guidelines v1.2.1, this variant is classified as BENIGN. Following criteria are met: BA1
Breakthrough Genomics, Breakthrough Genomics RCV001653921 SCV005302217 benign not provided criteria provided, single submitter not provided

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