ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.4757A>G (p.Asn1586Ser)

gnomAD frequency: 0.00036  dbSNP: rs147342579
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000711298 SCV000203791 uncertain significance not provided 2015-03-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000555581 SCV000630876 likely benign Cohen syndrome 2024-01-12 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000711298 SCV000841638 uncertain significance not provided 2017-10-05 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000711298 SCV001714882 uncertain significance not provided 2019-09-16 criteria provided, single submitter clinical testing
Natera, Inc. RCV000555581 SCV001460381 uncertain significance Cohen syndrome 2019-10-29 no assertion criteria provided clinical testing

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