ClinVar Miner

Submissions for variant NM_000426.4(LAMA2):c.8907C>T (p.Arg2969=)

gnomAD frequency: 0.00011  dbSNP: rs367622610
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000243836 SCV000304194 likely benign not specified criteria provided, single submitter clinical testing
Counsyl RCV000666515 SCV000790820 likely benign Merosin deficient congenital muscular dystrophy 2017-04-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000905376 SCV001049958 likely benign LAMA2-related muscular dystrophy 2024-10-09 criteria provided, single submitter clinical testing

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