ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.2604+14_2604+16del

gnomAD frequency: 0.00074  dbSNP: rs747422358
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000599842 SCV002380126 likely benign Niemann-Pick disease, type C1 2024-01-31 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000599842 SCV000733758 likely benign Niemann-Pick disease, type C1 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000599842 SCV000745700 likely benign Niemann-Pick disease, type C1 2016-10-14 no assertion criteria provided clinical testing

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