ClinVar Miner

Submissions for variant NM_004204.5(PIGQ):c.1617C>T (p.Arg539=)

gnomAD frequency: 0.00442  dbSNP: rs141040910
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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 RCV000556811 SCV000626101 benign Epilepsy 2024-01-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003392364 SCV004131721 likely benign not provided 2024-08-01 criteria provided, single submitter clinical testing PIGQ: BP4, BS1
Breakthrough Genomics, Breakthrough Genomics RCV003392364 SCV005294321 benign not provided criteria provided, single submitter not provided

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