ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.4252G>A (p.Val1418Met)

gnomAD frequency: 0.00002  dbSNP: rs145148206
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000464795 SCV000547739 likely benign Fanconi anemia 2025-01-23 criteria provided, single submitter clinical testing
Natera, Inc. RCV001274507 SCV001458736 uncertain significance Fanconi anemia complementation group A 2020-09-16 no assertion criteria provided clinical testing

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