ClinVar Miner

Submissions for variant NM_001080414.4(CCDC88C):c.4707G>A (p.Arg1569=)

gnomAD frequency: 0.00218  dbSNP: rs145210051
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000518808 SCV000612705 likely benign not specified 2017-06-07 criteria provided, single submitter clinical testing
Invitae RCV000884076 SCV001027431 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000884076 SCV004130257 likely benign not provided 2022-09-01 criteria provided, single submitter clinical testing CCDC88C: BP4, BP7

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