ClinVar Miner

Submissions for variant NM_001127178.3(PIGG):c.588G>A (p.Thr196=)

gnomAD frequency: 0.00020  dbSNP: rs149455987
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 RCV002123060 SCV002432743 benign Intellectual disability, autosomal recessive 53 2024-10-16 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004716880 SCV005305829 benign not provided criteria provided, single submitter not provided

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