ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.1017G>A (p.Thr339=)

gnomAD frequency: 0.00006  dbSNP: rs141934227
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000337035 SCV000342493 benign not specified 2016-05-31 criteria provided, single submitter clinical testing
GeneDx RCV000337035 SCV000534034 likely benign not specified 2018-01-29 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000645004 SCV000766743 benign Autosomal recessive limb-girdle muscular dystrophy type 2A 2024-01-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV000645004 SCV002085495 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2A 2019-12-09 no assertion criteria provided clinical testing

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