ClinVar Miner

Submissions for variant NM_176787.5(PIGN):c.741C>T (p.His247=)

gnomAD frequency: 0.57246  dbSNP: rs9320000
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000455462 SCV000540029 benign not specified 2016-03-29 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
Ambry Genetics RCV002311762 SCV000846071 benign Inborn genetic diseases 2016-03-11 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp RCV000602605 SCV001726716 benign Multiple congenital anomalies-hypotonia-seizures syndrome 1 2025-02-04 criteria provided, single submitter clinical testing
GeneDx RCV001643155 SCV001855376 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000602605 SCV002029863 benign Multiple congenital anomalies-hypotonia-seizures syndrome 1 2021-09-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001643155 SCV005315304 benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000602605 SCV000733804 benign Multiple congenital anomalies-hypotonia-seizures syndrome 1 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000455462 SCV001932812 benign not specified no assertion criteria provided clinical testing

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