ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.9458C>A (p.Ser3153Tyr)

dbSNP: rs1815134599
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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 RCV001047489 SCV001211451 uncertain significance Cohen syndrome 2021-08-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV003346277 SCV004051110 uncertain significance Inborn genetic diseases 2023-07-12 criteria provided, single submitter clinical testing The c.9533C>A (p.S3178Y) alteration is located in exon 52 (coding exon 51) of the VPS13B gene. This alteration results from a C to A substitution at nucleotide position 9533, causing the serine (S) at amino acid position 3178 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001047489 SCV002082715 uncertain significance Cohen syndrome 2020-07-24 no assertion criteria provided clinical testing

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