ClinVar Miner

Submissions for variant NM_005219.5(DIAPH1):c.3149-25dup

dbSNP: rs79558427
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001654301 SCV001864041 benign not provided 2019-08-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501988 SCV002809327 benign Autosomal dominant nonsyndromic hearing loss 1; Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 2022-04-05 criteria provided, single submitter clinical testing

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