ClinVar Miner

Submissions for variant NM_000426.4(LAMA2):c.4456G>A (p.Ala1486Thr)

gnomAD frequency: 0.00002  dbSNP: rs372576669
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000811965 SCV000952262 likely benign LAMA2-related muscular dystrophy 2024-10-29 criteria provided, single submitter clinical testing
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital RCV001731940 SCV001984730 likely benign not specified 2019-12-15 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003130065 SCV003808165 uncertain significance not provided 2022-05-11 criteria provided, single submitter clinical testing

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