ClinVar Miner

Submissions for variant NM_153747.2(PIGC):c.676C>T (p.Arg226Trp)

gnomAD frequency: 0.00635  dbSNP: rs34001453
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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 RCV000948234 SCV001094433 likely benign not provided 2025-01-23 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000948234 SCV002496957 benign not provided 2025-01-01 criteria provided, single submitter clinical testing C1orf105: BS1, BS2; PIGC: BP4, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000948234 SCV005258122 likely benign not provided criteria provided, single submitter not provided

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