ClinVar Miner

Submissions for variant NM_005559.4(LAMA1):c.5380-13G>A

gnomAD frequency: 0.82747  dbSNP: rs617573
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ClinVar version:
Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001518142 SCV001726789 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001730790 SCV001981215 benign Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome 2021-08-19 criteria provided, single submitter clinical testing
GeneDx RCV001518142 SCV001988750 benign not provided 2021-07-02 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001518142 SCV005248294 benign not provided criteria provided, single submitter not provided

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