ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.3246-20G>A

gnomAD frequency: 0.01199  dbSNP: rs6507717
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000078479 SCV000110335 benign not specified 2013-04-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000078479 SCV000303379 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001518158 SCV001726805 benign Niemann-Pick disease, type C1 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000675558 SCV005251279 benign not provided criteria provided, single submitter not provided
Mayo Clinic Laboratories, Mayo Clinic RCV000675558 SCV000801249 benign not provided 2017-05-15 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000675558 SCV001808287 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000078479 SCV001924868 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000675558 SCV001978167 likely benign not provided no assertion criteria provided clinical testing

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