ClinVar Miner

Submissions for variant NM_001018116.2(CAVIN4):c.57G>A (p.Ser19=)

gnomAD frequency: 0.00186  dbSNP: rs141589872
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000220082 SCV000269257 benign not specified 2014-11-24 criteria provided, single submitter clinical testing Ser19Ser in exon 1 of MURC: This variant is not expected to have clinical signif icance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 0.6% (27/4406) of Afri can American chromosomes from a broad population by the NHLBI Exome Sequencing P roject (http://evs.gs.washington.edu/EVS; dbSNP rs141589872).
GeneDx RCV001722147 SCV000533286 likely benign not provided 2020-08-26 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 21642240)
PreventionGenetics, part of Exact Sciences RCV003955248 SCV004774173 likely benign CAVIN4-related condition 2019-04-01 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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