ClinVar Miner

Submissions for variant NM_015634.4(KIFBP):c.1694_1695del (p.Glu565fs)

dbSNP: rs1216570912
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics, Erasmus University Medical Center RCV000984792 SCV000994837 uncertain significance Goldberg-Shprintzen syndrome 2019-05-16 no assertion criteria provided clinical testing

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