ClinVar Miner

Submissions for variant NM_000426.3(LAMA2):c.1400A>G (p.Lys467Arg) (rs138162760)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000518091 SCV000613958 uncertain significance not specified 2016-09-19 criteria provided, single submitter clinical testing
Invitae RCV000560647 SCV000658622 likely benign Laminin alpha 2-related dystrophy 2020-12-01 criteria provided, single submitter clinical testing
Baylor Genetics RCV001333431 SCV001526001 uncertain significance Merosin deficient congenital muscular dystrophy 2018-12-29 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Mayo Clinic Laboratories, Mayo Clinic RCV001507676 SCV001713370 uncertain significance not provided 2020-03-11 criteria provided, single submitter clinical testing

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