ClinVar Miner

Submissions for variant NM_033026.6(PCLO):c.13391C>T (p.Pro4464Leu)

gnomAD frequency: 0.00012  dbSNP: rs200789291
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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 RCV001871421 SCV002155847 benign not provided 2024-06-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001871421 SCV004162372 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing PCLO: BS1

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