ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.1303-4A>G

gnomAD frequency: 0.00007  dbSNP: rs772842729
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001514354 SCV001722180 benign Cohen syndrome 2025-01-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV002568024 SCV003739794 uncertain significance Inborn genetic diseases 2021-07-22 criteria provided, single submitter clinical testing The c.1303-4A>G intronic alteration consists of a A to G substitution 4 nucleotides before coding exon 9 in the VPS13B gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001514354 SCV002079465 benign Cohen syndrome 2020-05-26 no assertion criteria provided clinical testing

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