ClinVar Miner

Submissions for variant NM_005559.4(LAMA1):c.3126+7A>G

gnomAD frequency: 0.25992  dbSNP: rs603258
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001517320 SCV001725798 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001730781 SCV001981222 benign Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome 2021-08-19 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001517320 SCV005248317 benign not provided criteria provided, single submitter not provided

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