ClinVar Miner

Submissions for variant NM_005559.4(LAMA1):c.1183C>T (p.Arg395Cys)

gnomAD frequency: 0.00282  dbSNP: rs148751644
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 RCV000889150 SCV001032812 benign not provided 2024-10-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505264 SCV002813015 likely benign Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome 2022-03-29 criteria provided, single submitter clinical testing

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