ClinVar Miner

Submissions for variant NM_000426.4(LAMA2):c.4930G>A (p.Val1644Met)

gnomAD frequency: 0.00009  dbSNP: rs182762857
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000824038 SCV000964914 likely benign LAMA2-related muscular dystrophy 2024-03-20 criteria provided, single submitter clinical testing
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001252045 SCV001427793 likely benign Intellectual disability 2019-01-01 no assertion criteria provided clinical testing

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