ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.1746-64C>T

gnomAD frequency: 0.03691  dbSNP: rs17764849
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000839820 SCV000981727 likely benign not provided 2018-06-16 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genome-Nilou Lab RCV001526796 SCV001737410 benign Muscular dystrophy, limb-girdle, autosomal dominant 4 2021-06-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001526797 SCV001737411 benign Autosomal recessive limb-girdle muscular dystrophy type 2A 2021-06-10 criteria provided, single submitter clinical testing
Natera, Inc. RCV001526797 SCV002085537 benign Autosomal recessive limb-girdle muscular dystrophy type 2A 2019-08-26 no assertion criteria provided clinical testing

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