ClinVar Miner

Submissions for variant NM_005219.5(DIAPH1):c.891G>A (p.Pro297=)

gnomAD frequency: 0.00354  dbSNP: rs116463365
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000155358 SCV000205045 benign not specified 2012-05-07 criteria provided, single submitter clinical testing "Pro297Pro in Exon 09 of DIAPH1: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence, and has been identified in 1.1% (35/3096) of A frican American chromosomes from a broad population by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu/EVS; dbSNP rs116463365)."
Invitae RCV000530079 SCV000655972 benign Autosomal dominant nonsyndromic hearing loss 1; Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 2024-02-01 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000155358 SCV001476413 benign not specified 2020-07-09 criteria provided, single submitter clinical testing
GeneDx RCV001698660 SCV001916698 benign not provided 2020-03-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003937461 SCV004752196 benign DIAPH1-related disorder 2019-08-01 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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