ClinVar Miner

Submissions for variant NM_005559.4(LAMA1):c.6066G>A (p.Ala2022=)

gnomAD frequency: 0.00101  dbSNP: rs150951157
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 RCV000960977 SCV001108006 benign not provided 2024-12-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002479110 SCV002796480 likely benign Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome 2022-02-25 criteria provided, single submitter clinical testing

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