ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.2882A>G (p.Asn961Ser) (rs34084984)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000239155 SCV000296902 uncertain significance not specified 2015-10-30 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000239155 SCV000337834 benign not specified 2015-12-09 criteria provided, single submitter clinical testing
Counsyl RCV000671674 SCV000796671 likely benign Niemann-Pick disease type C1 2017-12-28 criteria provided, single submitter clinical testing
Invitae RCV000671674 SCV001100526 likely benign Niemann-Pick disease type C1 2019-12-31 criteria provided, single submitter clinical testing

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