ClinVar Miner

Submissions for variant NM_176787.5(PIGN):c.48C>T (p.Phe16=)

gnomAD frequency: 0.00002  dbSNP: rs148669516
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001491395 SCV001695988 likely benign Multiple congenital anomalies-hypotonia-seizures syndrome 1 2024-03-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002334523 SCV002635811 likely benign Inborn genetic diseases 2018-01-12 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
PreventionGenetics, part of Exact Sciences RCV003908759 SCV004726259 likely benign PIGN-related disorder 2019-06-18 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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