ClinVar Miner

Submissions for variant NM_006432.4(NPC2):c.88G>A (p.Val30Met) (rs151220873)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000362578 SCV000331094 benign not specified 2015-08-25 criteria provided, single submitter clinical testing
Invitae RCV001080727 SCV001013996 benign Niemann-Pick disease, type C2 2020-12-04 criteria provided, single submitter clinical testing
Mendelics RCV000675984 SCV001135068 likely benign not provided 2019-05-28 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001080727 SCV001716365 benign Niemann-Pick disease, type C2 2021-05-18 criteria provided, single submitter clinical testing
GeneDx RCV000675984 SCV001782622 likely benign not provided 2020-10-06 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 32858489, 15465422, 30556376, 15937921, 12955717, 25764212, 24386122, 21228398, 27792009, 25558065, 27884173, 25099932)
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre RCV000162102 SCV000196387 likely pathogenic Global developmental delay; Seizures; Microcephaly; Brain atrophy 2014-12-01 no assertion criteria provided research
Mayo Clinic Laboratories, Mayo Clinic RCV000675984 SCV000801716 likely benign not provided 2017-12-19 no assertion criteria provided clinical testing
Natera, Inc. RCV001080727 SCV001461635 benign Niemann-Pick disease, type C2 2020-04-18 no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000675984 SCV001741169 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000675984 SCV001807119 likely benign not provided no assertion criteria provided clinical testing

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