ClinVar Miner

Submissions for variant NM_005219.5(DIAPH1):c.1045-20T>A

gnomAD frequency: 0.00527  dbSNP: rs75686999
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001520201 SCV001729259 benign Autosomal dominant nonsyndromic hearing loss 1; Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001581171 SCV001813461 likely benign not provided 2018-07-31 criteria provided, single submitter clinical testing

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