ClinVar Miner

Submissions for variant NM_005219.5(DIAPH1):c.117+8T>A

gnomAD frequency: 0.00009  dbSNP: rs548327056
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001557351 SCV001779099 likely benign not provided 2018-11-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002072097 SCV002346629 benign Autosomal dominant nonsyndromic hearing loss 1; Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 2024-01-10 criteria provided, single submitter clinical testing

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