ClinVar Miner

Submissions for variant NM_015937.6(PIGT):c.533G>A (p.Arg178Gln)

gnomAD frequency: 0.00413  dbSNP: rs80158178
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000539341 SCV000654427 benign Multiple congenital anomalies-hypotonia-seizures syndrome 3 2025-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001637081 SCV001848524 benign not provided 2020-02-25 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001637081 SCV005311894 benign not provided criteria provided, single submitter not provided

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