ClinVar Miner

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

gnomAD frequency: 0.00004  dbSNP: rs368985041
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000864252 SCV001005029 likely benign Fanconi anemia 2024-07-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV004973048 SCV005583260 likely benign Inborn genetic diseases 2024-11-26 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Natera, Inc. RCV001280426 SCV001467606 likely benign Fanconi anemia complementation group A 2020-10-20 no assertion criteria provided clinical testing

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