ClinVar Miner

Submissions for variant NM_033026.6(PCLO):c.248+8C>A

gnomAD frequency: 0.00045  dbSNP: rs377422284
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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 RCV000998822 SCV001155109 uncertain significance not provided 2018-10-01 criteria provided, single submitter clinical testing
Invitae RCV000998822 SCV002466146 benign not provided 2024-01-28 criteria provided, single submitter clinical testing

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