ClinVar Miner

Submissions for variant NM_005219.5(DIAPH1):c.621-19T>C

gnomAD frequency: 0.00828  dbSNP: rs181224861
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001519194 SCV001728021 benign Autosomal dominant nonsyndromic hearing loss 1; Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001568210 SCV001792041 likely benign not provided 2018-07-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001519194 SCV002798761 likely benign Autosomal dominant nonsyndromic hearing loss 1; Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 2022-05-19 criteria provided, single submitter clinical testing

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