ClinVar Miner

Submissions for variant NM_005559.4(LAMA1):c.4729T>G (p.Ser1577Ala)

gnomAD frequency: 0.21927  dbSNP: rs12961939
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000990068 SCV001140848 benign Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001519202 SCV001728029 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000990068 SCV001981217 benign Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome 2021-08-19 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001519202 SCV005248300 benign not provided criteria provided, single submitter not provided

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