ClinVar Miner

Submissions for variant NM_001100913.3(PACS2):c.1269-4A>G

gnomAD frequency: 0.00005  dbSNP: rs376690008
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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
Labcorp Genetics (formerly Invitae), Labcorp RCV001872664 SCV002144981 benign not provided 2024-11-24 criteria provided, single submitter clinical testing
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital RCV001872664 SCV002775040 uncertain significance not provided 2022-12-17 criteria provided, single submitter clinical testing

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