ClinVar Miner

Submissions for variant NM_000426.4(LAMA2):c.4969G>A (p.Val1657Met)

gnomAD frequency: 0.00014  dbSNP: rs370971334
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000724455 SCV000229766 uncertain significance not provided 2014-12-18 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000177826 SCV000613970 uncertain significance not specified 2016-08-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000764628 SCV000895736 uncertain significance Merosin deficient congenital muscular dystrophy; Muscular dystrophy, limb-girdle, autosomal recessive 23 2018-10-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001248058 SCV001421522 likely benign LAMA2-related muscular dystrophy 2024-01-16 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000724455 SCV003808213 uncertain significance not provided 2021-04-05 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV001248058 SCV001423457 not provided LAMA2-related muscular dystrophy no assertion provided phenotyping only Variant interpretted as Uncertain significance and reported on 02-08-2015 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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