ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.457C>G (p.Gln153Glu)

gnomAD frequency: 0.00003  dbSNP: rs774448881
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672567 SCV000797681 uncertain significance Fanconi anemia complementation group A 2018-02-06 criteria provided, single submitter clinical testing
Invitae RCV002531318 SCV003500148 likely benign Fanconi anemia 2023-11-27 criteria provided, single submitter clinical testing

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