ClinVar Miner

Submissions for variant NM_005219.5(DIAPH1):c.1821TCC[16] (p.Pro616_Pro620dup)

dbSNP: rs3075570
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000689036 SCV000816672 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 RCV001653979 SCV001870920 benign not provided 2021-04-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002544839 SCV003682119 likely benign Inborn genetic diseases 2022-06-03 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen RCV001653979 SCV004157241 likely benign not provided 2022-07-01 criteria provided, single submitter clinical testing DIAPH1: BS2

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