ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.2862G>A (p.Ser954=)

gnomAD frequency: 0.00006  dbSNP: rs373517774
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000078476 SCV000110332 uncertain significance not provided 2012-09-12 criteria provided, single submitter clinical testing
Baylor Genetics RCV001335213 SCV001528306 uncertain significance Niemann-Pick disease, type C1 2018-04-11 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Invitae RCV001335213 SCV001639152 likely benign Niemann-Pick disease, type C1 2024-01-29 criteria provided, single submitter clinical testing

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