ClinVar Miner

Submissions for variant NM_005559.4(LAMA1):c.1274G>C (p.Gly425Ala)

gnomAD frequency: 0.00009  dbSNP: rs368665310
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV004568653 SCV005051404 uncertain significance not provided 2024-05-01 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV000509132 SCV000607098 not provided Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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