ClinVar Miner

Submissions for variant NM_016938.5(EFEMP2):c.460G>A (p.Gly154Ser)

gnomAD frequency: 0.00001  dbSNP: rs377199919
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003642914 SCV000883777 uncertain significance Cutis laxa, autosomal recessive, type 1B 2023-11-09 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV004792428 SCV005412377 uncertain significance not provided 2023-11-29 criteria provided, single submitter clinical testing PP3, PM2

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