ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.4233G>A (p.Pro1411=)

gnomAD frequency: 0.00004  dbSNP: rs368985041
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 RCV000864252 SCV001005029 likely benign Fanconi anemia 2024-01-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV001280426 SCV001467606 likely benign Fanconi anemia complementation group A 2020-10-20 no assertion criteria provided clinical testing

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