ClinVar Miner

Submissions for variant NM_018341.3(ERMARD):c.1246G>A (p.Val416Ile)

gnomAD frequency: 0.00145  dbSNP: rs143351214
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000239187 SCV000297283 uncertain significance not specified 2015-08-19 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000239187 SCV000594593 benign not specified 2017-05-25 criteria provided, single submitter clinical testing
GeneDx RCV000954262 SCV000714846 likely benign not provided 2018-06-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000954262 SCV001100885 likely benign not provided 2023-10-19 criteria provided, single submitter clinical testing

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