ClinVar Miner

Submissions for variant NM_000426.4(LAMA2):c.3403A>C (p.Thr1135Pro)

gnomAD frequency: 0.00005  dbSNP: rs760558443
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001727378 SCV001961999 uncertain significance not provided 2021-09-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002477904 SCV002789149 uncertain significance Merosin deficient congenital muscular dystrophy; Muscular dystrophy, limb-girdle, autosomal recessive 23 2021-11-01 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001727378 SCV003816315 uncertain significance not provided 2023-07-20 criteria provided, single submitter clinical testing

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