ClinVar Miner

Submissions for variant NM_138387.4(G6PC3):c.516G>C (p.Val172=)

gnomAD frequency: 0.00004  dbSNP: rs763502623
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001473336 SCV001677488 likely benign Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency 2024-08-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV004988644 SCV005594966 likely benign Inborn genetic diseases 2024-11-28 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.

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