ClinVar Miner

Submissions for variant NM_021978.4(ST14):c.1113+15G>A

gnomAD frequency: 0.79383  dbSNP: rs597661
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000607725 SCV000743663 benign Autosomal recessive congenital ichthyosis 11 2017-07-28 criteria provided, single submitter clinical testing
GeneDx RCV001644706 SCV001858177 benign not provided 2021-06-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000607725 SCV002057175 benign Autosomal recessive congenital ichthyosis 11 2021-07-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001644706 SCV002490546 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001644706 SCV005231774 benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000607725 SCV000733009 benign Autosomal recessive congenital ichthyosis 11 no assertion criteria provided clinical testing

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