ClinVar Miner

Submissions for variant NM_000426.4(LAMA2):c.8497G>T (p.Asp2833Tyr)

gnomAD frequency: 0.00004  dbSNP: rs794727815
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000179578 SCV000231844 uncertain significance not provided 2015-01-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002492787 SCV002779040 uncertain significance Merosin deficient congenital muscular dystrophy; Muscular dystrophy, limb-girdle, autosomal recessive 23 2021-09-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002515279 SCV003446257 likely benign LAMA2-related muscular dystrophy 2023-12-14 criteria provided, single submitter clinical testing

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