ClinVar Miner

Submissions for variant NM_001018116.2(CAVIN4):c.243T>G (p.Asn81Lys)

gnomAD frequency: 0.00101  dbSNP: rs149165620
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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 RCV000218904 SCV000270416 likely benign not specified 2015-06-05 criteria provided, single submitter clinical testing p.Asn81Lys in exon 1 of MURC: This variant is not expected to have clinical sign ificance because it has been identified in 0.4% (41/10342) of African chromosome s by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbS NP rs149165620).
GeneDx RCV001697245 SCV000532873 likely benign not provided 2021-04-26 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 21642240)
Revvity Omics, Revvity RCV001697245 SCV004234953 uncertain significance not provided 2021-12-13 criteria provided, single submitter clinical testing

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