ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.5908G>A (p.Glu1970Lys)

dbSNP: rs2132945762
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kariminejad - Najmabadi Pathology & Genetics Center RCV001814476 SCV001755441 likely pathogenic Ear malformation 2021-07-10 criteria provided, single submitter clinical testing

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