ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.9331-2A>T

gnomAD frequency: 0.06492  dbSNP: rs74485751
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001698671 SCV001916559 benign not provided 2018-07-07 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 31589614)
Mendelics RCV002249397 SCV002516738 benign not specified 2022-05-04 criteria provided, single submitter clinical testing
Counsyl RCV000670757 SCV000795652 likely pathogenic Cohen syndrome 2017-11-22 flagged submission clinical testing
Reproductive Health Research and Development, BGI Genomics RCV000670757 SCV001142391 benign Cohen syndrome 2020-01-06 no assertion criteria provided curation NG_007098.2(NM_017890.4):c.9406-2A>T in the gene VPS13B has an allele frequency of 0.097 in European (Finnish) subpopulation in the gnomAD database. This evidence suggests the variant to be classified as benign. ACMG/AMP criteria applied: BA1.
Natera, Inc. RCV000670757 SCV002082709 benign Cohen syndrome 2020-02-22 no assertion criteria provided clinical testing

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