ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.2152-10G>C

gnomAD frequency: 0.00001  dbSNP: rs557705265
Minimum review status: Collection method:
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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 RCV000862242 SCV001002721 benign Fanconi anemia 2024-01-30 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276550 SCV001462948 uncertain significance Fanconi anemia complementation group A 2020-01-17 no assertion criteria provided clinical testing

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