ClinVar Miner

Submissions for variant NM_176787.5(PIGN):c.2577-13dup

dbSNP: rs138671843
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000533640 SCV000651226 benign Multiple congenital anomalies-hypotonia-seizures syndrome 1 2024-02-01 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000712549 SCV000843064 benign not provided 2017-09-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002315013 SCV000847598 likely benign Inborn genetic diseases 2017-07-24 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.
GeneDx RCV000712549 SCV001744934 benign not provided 2018-07-05 criteria provided, single submitter clinical testing

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