ClinVar Miner

Submissions for variant NM_001376571.1(MADD):c.2816+1G>A

dbSNP: rs2063412625
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Hadassah Hebrew University Medical Center RCV001250121 SCV001364046 pathogenic Deeah syndrome 2019-06-20 criteria provided, single submitter clinical testing

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