ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.1071G>A (p.Ser357=)

gnomAD frequency: 0.00282  dbSNP: rs61731964
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000346049 SCV000331135 benign not specified 2015-07-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000872135 SCV001013907 benign Niemann-Pick disease, type C1 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001566533 SCV001790067 likely benign not provided 2021-05-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001566533 SCV005215172 likely benign not provided criteria provided, single submitter not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001566533 SCV001808137 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000346049 SCV001970034 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001566533 SCV002034264 likely benign not provided no assertion criteria provided clinical testing

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