ClinVar Miner

Submissions for variant NM_005559.4(LAMA1):c.4026T>G (p.Val1342=)

gnomAD frequency: 0.15758  dbSNP: rs73938538
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001731089 SCV001981219 benign Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome 2021-08-19 criteria provided, single submitter clinical testing
GeneDx RCV001762744 SCV001988749 benign not provided 2021-07-13 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 25668194)
Labcorp Genetics (formerly Invitae), Labcorp RCV001762744 SCV002342707 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001762744 SCV005248303 benign not provided criteria provided, single submitter not provided

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