ClinVar Miner

Submissions for variant NM_012232.6(CAVIN1):c.*190A>G

gnomAD frequency: 0.83659  dbSNP: rs7207285
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000316293 SCV000402878 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
GeneDx RCV001653578 SCV001861617 benign not provided 2019-08-06 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001653578 SCV005250401 benign not provided criteria provided, single submitter not provided

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