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: 4
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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
Invitae RCV002060660 SCV002402595 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
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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