ClinVar Miner

Submissions for variant NM_005559.4(LAMA1):c.8982C>T (p.Asp2994=)

gnomAD frequency: 0.25393  dbSNP: rs2016639
Minimum review status: Collection method:
Minimum conflict level:
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 RCV001520701 SCV001729873 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001520701 SCV001891141 benign not provided 2020-07-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001730810 SCV001981207 benign Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome 2021-08-19 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001520701 SCV005248256 benign not provided criteria provided, single submitter not provided

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