ClinVar Miner

Submissions for variant NM_000426.4(LAMA2):c.4524-2A>T

dbSNP: rs1554278541
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671265 SCV000796222 likely pathogenic Merosin deficient congenital muscular dystrophy 2017-12-05 criteria provided, single submitter clinical testing
Baylor Genetics RCV000671265 SCV004190512 pathogenic Merosin deficient congenital muscular dystrophy 2023-05-05 criteria provided, single submitter clinical testing
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV000671265 SCV004806317 likely pathogenic Merosin deficient congenital muscular dystrophy 2024-03-25 criteria provided, single submitter clinical testing
OMIM RCV000671265 SCV000035620 pathogenic Merosin deficient congenital muscular dystrophy 1995-10-01 no assertion criteria provided literature only

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