ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.665A>G (p.Asn222Ser) (rs55680026)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000254118 SCV000110341 likely benign not specified 2015-09-22 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000078485 SCV000281602 uncertain significance not provided 2015-06-04 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
PreventionGenetics,PreventionGenetics RCV000254118 SCV000303389 likely benign not specified criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000078485 SCV000608853 uncertain significance not provided 2018-09-01 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000509165 SCV000744749 likely benign Niemann-Pick disease type C1 2017-05-05 criteria provided, single submitter clinical testing
Invitae RCV000078485 SCV001012165 likely benign not provided 2019-03-04 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV000509165 SCV000607048 not provided Niemann-Pick disease type C1 no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam RCV000509165 SCV000745717 likely benign Niemann-Pick disease type C1 2017-09-21 no assertion criteria provided clinical testing

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