ClinVar Miner

Submissions for variant NM_005219.5(DIAPH1):c.3198T>C (p.Ile1066=)

gnomAD frequency: 0.00001  dbSNP: rs906341811
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002162590 SCV002419053 likely benign Autosomal dominant nonsyndromic hearing loss 1; Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 2023-09-03 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004801163 SCV005422900 likely benign not specified 2024-10-08 criteria provided, single submitter clinical testing

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