ClinVar Miner

Submissions for variant NM_176787.5(PIGN):c.2620-5del

dbSNP: rs11437076
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Total submissions: 3
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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 RCV000203007 SCV000258265 benign not specified 2015-04-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002311318 SCV000846352 likely benign Inborn genetic diseases 2018-04-03 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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 RCV001521998 SCV001731445 benign Multiple congenital anomalies-hypotonia-seizures syndrome 1 2025-01-30 criteria provided, single submitter clinical testing

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