ClinVar Miner

Submissions for variant NM_001127178.3(PIGG):c.2095G>A (p.Val699Ile)

gnomAD frequency: 0.15552  dbSNP: rs13114026
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ClinVar version:
Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001511702 SCV001718987 benign Intellectual disability, autosomal recessive 53 2025-02-04 criteria provided, single submitter clinical testing
GeneDx RCV001538509 SCV001756172 benign not provided 2021-04-02 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001511702 SCV002029853 benign Intellectual disability, autosomal recessive 53 2021-09-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001538509 SCV005305840 benign not provided criteria provided, single submitter not provided

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