ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.1813G>C (p.Val605Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics,Tor Vergata University RCV001200923 SCV001190309 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B 2019-02-15 criteria provided, single submitter research It is described the case of a patient affected by LGMD2A, for which the application of NGS approach allowed to confirm the diagnosis of calpainopathy linked with two heterozygous variants in CAPN3, namely c.550delA and c.1813G>C.

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