ClinVar Miner

Submissions for variant NM_001127178.3(PIGG):c.771G>A (p.Thr257=)

gnomAD frequency: 0.00322  dbSNP: rs35496504
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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 RCV000653436 SCV000775315 benign Intellectual disability, autosomal recessive 53 2025-01-27 criteria provided, single submitter clinical testing
GeneDx RCV001785692 SCV002027817 likely benign not provided 2021-05-21 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001785692 SCV004151786 likely benign not provided 2022-11-01 criteria provided, single submitter clinical testing PIGG: BP4, BP7, BS2

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