ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.2235C>T (p.Tyr745=) (rs147774793)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000723489 SCV000227750 uncertain significance not provided 2018-03-27 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000246649 SCV000301876 benign not specified criteria provided, single submitter clinical testing
Invitae RCV001085030 SCV000645488 likely benign Limb-girdle muscular dystrophy, type 2A 2020-12-03 criteria provided, single submitter clinical testing
GeneDx RCV000246649 SCV000729916 likely benign not specified 2017-02-02 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.
Athena Diagnostics Inc RCV000723489 SCV001143417 likely benign not provided 2019-05-23 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000723489 SCV001149401 uncertain significance not provided 2016-05-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001085030 SCV001275951 uncertain significance Limb-girdle muscular dystrophy, type 2A 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Natera, Inc. RCV001085030 SCV001460848 uncertain significance Limb-girdle muscular dystrophy, type 2A 2020-04-17 no assertion criteria provided clinical testing

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