ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.465A>G (p.Glu155=)

gnomAD frequency: 0.00020  dbSNP: rs138512851
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000554953 SCV000626441 likely benign Fanconi anemia 2024-01-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002490952 SCV002800262 likely benign Fanconi anemia complementation group P 2021-07-21 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003409765 SCV004144929 likely benign not provided 2022-10-01 criteria provided, single submitter clinical testing SLX4: BP4, BP7
Leiden Open Variation Database RCV001194830 SCV001364637 likely benign not specified 2012-08-31 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Janine Bakker.

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