ClinVar Miner

Submissions for variant NM_004629.2(FANCG):c.1359del (p.Ala454fs)

dbSNP: rs1829066243
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001194962 SCV005057694 likely pathogenic Fanconi anemia complementation group G 2023-11-21 criteria provided, single submitter clinical testing
Leiden Open Variation Database RCV001194962 SCV001364835 likely pathogenic Fanconi anemia complementation group G 2020-02-28 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Myungshin Kim.

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