ClinVar Miner

Submissions for variant NM_030916.3(NECTIN4):c.1478G>C (p.Arg493Pro)

dbSNP: rs753298397
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001331421 SCV001523458 uncertain significance Ectodermal dysplasia-syndactyly syndrome 1 2020-06-03 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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