ClinVar Miner

Submissions for variant NM_005559.4(LAMA1):c.3378T>C (p.Gly1126=)

gnomAD frequency: 0.48883  dbSNP: rs9946794
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001519206 SCV001728033 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001730800 SCV001981221 benign Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome 2021-08-19 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001519206 SCV005248312 benign not provided criteria provided, single submitter not provided

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