ClinVar Miner

Submissions for variant NM_005236.2(ERCC4):c.689T>C (p.Leu230Pro) (rs397509402)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000049247 SCV000077500 pathogenic Fanconi anemia, complementation group Q 2013-05-02 no assertion criteria provided literature only
Leiden Open Variation Database RCV000049247 SCV001364563 pathogenic Fanconi anemia, complementation group Q 2014-10-03 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach.

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