ClinVar Miner

Submissions for variant NM_005219.5(DIAPH1):c.3465G>A (p.Arg1155=)

gnomAD frequency: 0.00001  dbSNP: rs377665243
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001413356 SCV001615468 likely benign Autosomal dominant nonsyndromic hearing loss 1; Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 2023-10-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003433144 SCV004157237 likely benign not provided 2022-05-01 criteria provided, single submitter clinical testing DIAPH1: BP4, BP7

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