ClinVar Miner

Submissions for variant NM_005219.5(DIAPH1):c.2437G>A (p.Ala813Thr)

gnomAD frequency: 0.00088  dbSNP: rs147203145
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000887542 SCV001031100 likely benign Autosomal dominant nonsyndromic hearing loss 1; Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 2024-01-17 criteria provided, single submitter clinical testing
GeneDx RCV001576993 SCV001804295 likely benign not provided 2018-08-30 criteria provided, single submitter clinical testing

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