ClinVar Miner

Submissions for variant NM_015937.6(PIGT):c.1502G>A (p.Gly501Asp)

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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 RCV002967056 SCV003283757 likely benign Multiple congenital anomalies-hypotonia-seizures syndrome 3 2025-01-06 criteria provided, single submitter clinical testing
GeneDx RCV004784083 SCV005396209 uncertain significance not provided 2024-05-10 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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