ClinVar Miner

Submissions for variant NM_002875.5(RAD51):c.391A>C (p.Thr131Pro)

dbSNP: rs1895530875
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV001172541 SCV001335591 pathogenic Fanconi anemia complementation group R 2020-08-07 no assertion criteria provided literature only
Leiden Open Variation Database RCV001194791 SCV001364585 pathogenic not provided 2015-08-26 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Francis Lach. Comment: Variant observed de novo.

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