ClinVar Miner

Submissions for variant NM_001256447.2(BCAP31):c.365_366del (p.Leu122fs)

dbSNP: rs1557047954
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München RCV000578429 SCV000680153 pathogenic Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome 2017-09-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV001266266 SCV001444439 pathogenic Inborn genetic diseases 2018-02-20 criteria provided, single submitter clinical testing

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