ClinVar Miner

Submissions for variant NM_033026.6(PCLO):c.14766C>T (p.Ala4922=)

gnomAD frequency: 0.00572  dbSNP: rs146099474
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000969990 SCV001117542 benign not provided 2025-02-02 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000969990 SCV001962056 likely benign not provided 2024-11-01 criteria provided, single submitter clinical testing PCLO: BP4, BP7, BS2

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