ClinVar Miner

Submissions for variant NC_000002.12:g.178728782T>C

gnomAD frequency: 0.00001  dbSNP: rs1025136671
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001089008 SCV000642764 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-09-23 criteria provided, single submitter clinical testing
GeneDx RCV000611059 SCV000728018 likely benign not specified 2018-02-22 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.
Eurofins Ntd Llc (ga) RCV000731843 SCV000859696 uncertain significance not provided 2018-03-01 criteria provided, single submitter clinical testing

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