ClinVar Miner

Submissions for variant NM_012232.6(CAVIN1):c.*1446G>C

gnomAD frequency: 0.04533  dbSNP: rs4796583
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000284013 SCV000402866 likely benign Congenital generalized lipodystrophy type 4 2017-04-27 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Breakthrough Genomics, Breakthrough Genomics RCV004703719 SCV005212777 likely benign not provided criteria provided, single submitter not provided

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