ClinVar Miner

Submissions for variant NM_001127178.3(PIGG):c.2591C>G (p.Ala864Gly)

gnomAD frequency: 0.00011  dbSNP: rs761351190
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000540849 SCV000656886 likely benign Intellectual disability, autosomal recessive 53 2025-01-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004711191 SCV005263593 likely benign not provided criteria provided, single submitter not provided

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