ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.1641G>A (p.Thr547=)

gnomAD frequency: 0.00009  dbSNP: rs200497436
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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 RCV001485065 SCV001689490 likely benign Fanconi anemia 2022-10-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495283 SCV002800070 likely benign Fanconi anemia complementation group P 2021-12-12 criteria provided, single submitter clinical testing
Leiden Open Variation Database RCV001194873 SCV001364712 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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