ClinVar Miner

Submissions for variant NM_005559.4(LAMA1):c.5481A>G (p.Val1827=)

gnomAD frequency: 0.00201  dbSNP: rs138711280
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000962575 SCV001109665 benign not provided 2025-01-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000962575 SCV002498350 likely benign not provided 2024-10-01 criteria provided, single submitter clinical testing LAMA1: BP4, BP7
Fulgent Genetics, Fulgent Genetics RCV002479115 SCV002795615 likely benign Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome 2021-12-30 criteria provided, single submitter clinical testing

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