ClinVar Miner

Submissions for variant NM_005559.4(LAMA1):c.5496+19C>T

gnomAD frequency: 0.48483  dbSNP: rs523711
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001639001 SCV001848317 benign not provided 2019-06-20 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001730885 SCV001981213 benign Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome 2021-08-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001639001 SCV002411991 benign not provided 2023-12-21 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001639001 SCV005248291 benign not provided criteria provided, single submitter not provided

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