ClinVar Miner

Submissions for variant NM_005219.5(DIAPH1):c.117+9C>T

gnomAD frequency: 0.00003  dbSNP: rs528279050
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000973850 SCV001121636 benign Autosomal dominant nonsyndromic hearing loss 1; Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 2023-11-28 criteria provided, single submitter clinical testing
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital RCV001732000 SCV001984328 likely benign Autosomal dominant nonsyndromic hearing loss 1 2020-11-03 criteria provided, single submitter clinical testing

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