ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.1564T>C (p.Cys522Arg)

dbSNP: rs1572366516
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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 RCV000844894 SCV000986696 not provided Dilated cardiomyopathy 1A; Charcot-Marie-Tooth disease type 2B1; Emery-Dreifuss muscular dystrophy 2, autosomal dominant; Hutchinson-Gilford syndrome; Congenital muscular dystrophy due to LMNA mutation no assertion provided phenotyping only Variant interpretted as Uncertain significance and reported on 10/21/2016 by 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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