ClinVar Miner

Submissions for variant NM_000426.4(LAMA2):c.370G>T (p.Val124Leu)

dbSNP: rs1278777348
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GenomeConnect, ClinGen RCV000509227 SCV000607096 not provided Merosin deficient congenital muscular dystrophy no assertion provided phenotyping only 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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