ClinVar Miner

Submissions for variant NM_021978.4(ST14):c.1215C>T (p.Asn405=)

gnomAD frequency: 0.59526  dbSNP: rs476106
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000613645 SCV000743664 benign Autosomal recessive congenital ichthyosis 11 2017-07-28 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000613645 SCV002057176 benign Autosomal recessive congenital ichthyosis 11 2021-07-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002060660 SCV002402595 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002060660 SCV005231778 benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000613645 SCV000733010 benign Autosomal recessive congenital ichthyosis 11 no assertion criteria provided clinical testing

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