ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.3742C>G (p.Leu1248Val)

dbSNP: rs562686924
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Endocrinology Laboratory, Christian Medical College RCV001823839 SCV002073498 uncertain significance Cohen syndrome criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001823839 SCV003279154 likely benign Cohen syndrome 2023-10-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV003247037 SCV003963604 uncertain significance Inborn genetic diseases 2023-06-06 criteria provided, single submitter clinical testing The c.3742C>G (p.L1248V) alteration is located in exon 25 (coding exon 24) of the VPS13B gene. This alteration results from a C to G substitution at nucleotide position 3742, causing the leucine (L) at amino acid position 1248 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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