ClinVar Miner

Submissions for variant NM_033026.6(PCLO):c.14397C>G (p.Ser4799=)

gnomAD frequency: 0.00048  dbSNP: rs370303452
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001531673 SCV001746912 likely benign not provided 2021-06-01 criteria provided, single submitter clinical testing
Invitae RCV001531673 SCV002420970 benign not provided 2024-01-24 criteria provided, single submitter clinical testing

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