ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.127G>A (p.Glu43Lys)

gnomAD frequency: 0.00001  dbSNP: rs138277307
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579569 SCV001807736 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001579569 SCV001968412 likely benign not provided no assertion criteria provided clinical testing

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