ClinVar Miner

Submissions for variant NM_005559.4(LAMA1):c.8962C>T (p.Arg2988Cys)

gnomAD frequency: 0.00009  dbSNP: rs138692442
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000925217 SCV001070751 likely benign not provided 2024-08-21 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003492189 SCV004237853 likely benign Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome 2023-10-31 criteria provided, single submitter clinical testing

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