ClinVar Miner

Submissions for variant NM_001018115.3(FANCD2):c.2196G>A (p.Pro732=)

gnomAD frequency: 0.00003  dbSNP: rs200848801
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001465684 SCV001669675 likely benign Fanconi anemia 2024-01-12 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV004546658 SCV005041952 likely benign not provided 2024-04-01 criteria provided, single submitter clinical testing FANCD2: BP4, BP7

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