ClinVar Miner

Submissions for variant NM_005559.4(LAMA1):c.3573C>T (p.Thr1191=)

gnomAD frequency: 0.39038  dbSNP: rs619106
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 RCV001519205 SCV001728032 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001519205 SCV001827696 benign not provided 2020-05-26 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001730799 SCV001981220 benign Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome 2021-08-19 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001519205 SCV005248309 benign not provided criteria provided, single submitter not provided

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